Intergen (Intergen Genetics and Rare Diseases Diagnosis Center)
General information
Intergen
Intergen Genetics and Rare Diseases Diagnosis Center
Mustafa Kemal Mahallesi, 2119.sokak No:5, 06510 Çankaya/Ankara
Ankara
Ankara
Turkey - 06510
http://www.intergen.com.tr/en
Organization ID: 320129
Intergen Genetics and Rare Diseases Diagnosis Center
Mustafa Kemal Mahallesi, 2119.sokak No:5, 06510 Çankaya/Ankara
Ankara
Ankara
Turkey - 06510
http://www.intergen.com.tr/en
Organization ID: 320129
Personnel
- Hasan Bas, Medical Director
Phone: +903124284814
Email: [email protected] - Betül Cerrah Tosun, Variant scientist/curator
Phone: +903124284814
Email: [email protected] - Serdar Ceylaner, Medical Director
Phone: 03124284814
Email: [email protected] - Ezgi Demir, Variant scientist/curator
Phone: +903124284814
Email: [email protected] - Fatma Dereli, Coordinator
Phone: +903124284814
Email: [email protected] - Tugba Ersoy, Variant scientist/curator
Phone: +903124284814
Email: [email protected] - Dudu Türkyılmaz, Variant scientist/curator
Phone: +903124284814
Email: [email protected] - Selin Yıldız, Variant scientist/curator
Phone: +903124284814
Email: [email protected] - Burak Yılmaz, Variant scientist/curator
Phone: +903124284814
Email: [email protected] - Başak Rana Çakır, Variant scientist/curator
Phone: +903124284814
Email: [email protected] - Betül Çalışkan, Variant scientist/curator
Phone: +903124284814
Email: [email protected] - Mine Öcal, Variant scientist/curator
Phone: +903124284814
Email: [email protected] - Hilal Şeker, Variant scientist/curator
Phone: +903124284814
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 180
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCA12 | 1 | Jan 1, 2024 |
| ABCA4 | 1 | Aug 29, 2023 |
| ABCD1 | 1 | Aug 15, 2023 |
| ACADM | 1 | Sep 5, 2023 |
| ACSF3 | 1 | Jan 1, 2024 |
| AGBL1 | 1 | Jul 20, 2023 |
| ALDH4A1 | 1 | Nov 7, 2023 |
| ALDH5A1 | 1 | Jul 6, 2023 |
| ALPL | 1 | Dec 26, 2023 |
| APP | 1 | Sep 5, 2023 |
| ARMC9 | 1 | Jul 4, 2023 |
| ASNS | 2 | Jul 11, 2023 |
| ATP1A3 | 1 | Nov 7, 2023 |
| ATP6AP1 | 1 | Aug 15, 2023 |
| ATP7B | 1 | Jul 11, 2023 |
| ATRX | 1 | Sep 19, 2023 |
| BCAS3 | 1 | Nov 6, 2024 |
| BCL11B | 1 | Aug 31, 2023 |
| BLTP1 | 2 | Sep 19, 2023 |
| BRCA1 | 1 | Jul 20, 2024 |
| BRCA2 | 1 | May 12, 2024 |
| BTD | 1 | Jun 13, 2023 |
| C6 | 2 | Aug 28, 2023 |
| C7 | 1 | Aug 28, 2023 |
| CABP2 | 1 | Dec 12, 2023 |
| CACNA1A | 1 | Jul 18, 2023 |
| CACNA1S | 1 | Jul 21, 2023 |
| CAPN3 | 2 | Aug 31, 2023 |
| CASQ2 | 1 | Jul 6, 2023 |
| CBS | 1 | Dec 26, 2023 |
| CC2D2A | 1 | Sep 5, 2023 |
| CD36 | 1 | Mar 19, 2024 |
| CDHR1 | 1 | Nov 14, 2023 |
| CEL | 1 | Mar 18, 2024 |
| CEP290 | 1 | Jul 4, 2023 |
| CFTR | 2 | Sep 19, 2023 |
| CHD7 | 1 | Jun 6, 2023 |
| CLCNKB | 1 | Jul 5, 2023 |
| COL11A1 | 1 | Sep 5, 2023 |
| COL12A1 | 1 | Sep 5, 2023 |
| COL27A1 | 1 | Jan 1, 2024 |
| COL6A2 | 1 | Jul 12, 2023 |
| CPS1 | 1 | Jul 6, 2023 |
| CR2 | 1 | Aug 31, 2023 |
| CRLF1 | 1 | Jul 12, 2023 |
| CSF1R | 1 | Jan 1, 2024 |
| CUL7 | 1 | Jul 4, 2023 |
| CYP21A2 | 2 | Jul 26, 2023 |
| CYP27B1 | 1 | Oct 10, 2023 |
| CZ1P-ASNS | 2 | Jul 11, 2023 |
| DDX3X | 1 | Jul 18, 2023 |
| DLL1 | 1 | Jul 6, 2023 |
| DNAH11 | 1 | Jan 1, 2024 |
| DNAH5 | 1 | Nov 14, 2023 |
| DYRK1A | 1 | Nov 20, 2024 |
| DYSF | 1 | Mar 19, 2024 |
| EDAR | 1 | Aug 31, 2023 |
| ELANE | 1 | Jun 9, 2023 |
| ELP4 | 1 | Sep 11, 2023 |
| EPCAM | 1 | Nov 20, 2024 |
| ETHE1 | 1 | Nov 7, 2023 |
| EVC | 1 | Aug 31, 2023 |
| FBN1 | 1 | Aug 28, 2023 |
| FGF14 | 1 | Aug 28, 2023 |
| FLNB | 1 | Jan 1, 2024 |
| FOXC1 | 1 | Aug 28, 2023 |
| FRRS1L | 1 | Dec 23, 2023 |
| FYCO1 | 1 | Jul 6, 2023 |
| G6PD | 4 | Jul 4, 2023 |
| GALC | 1 | Jul 5, 2023 |
| GALT | 1 | Nov 28, 2023 |
| GBA2 | 2 | Sep 19, 2023 |
| GH-LCR | 1 | Jul 11, 2023 |
| GJB4 | 1 | Sep 19, 2023 |
| GLDN | 1 | Nov 28, 2023 |
| GLI1 | 1 | Jul 12, 2023 |
| HBB | 1 | Jun 9, 2023 |
| HOXC13 | 1 | Mar 19, 2024 |
| HOXC13-AS | 1 | Mar 19, 2024 |
| HSD17B4 | 1 | Nov 14, 2023 |
| HSPB1 | 1 | Aug 31, 2023 |
| IDUA | 1 | Dec 26, 2023 |
| IFIH1 | 1 | Aug 28, 2023 |
| IMPDH1 | 1 | Jan 1, 2024 |
| ISCU | 1 | Sep 5, 2023 |
| ITPR2 | 1 | Sep 19, 2023 |
| KCNJ1 | 1 | Oct 10, 2023 |
| KCNN4 | 1 | Sep 5, 2023 |
| KCNQ1 | 1 | Jul 18, 2023 |
| KIAA0825 | 1 | Jan 1, 2024 |
| KIF22 | 1 | Nov 28, 2023 |
| KMT2C | 1 | Nov 28, 2023 |
| KRT18 | 1 | Mar 19, 2024 |
| LAGE3 | 1 | Jul 26, 2023 |
| LAMA2 | 2 | Dec 26, 2023 |
| LIPA | 1 | Aug 28, 2023 |
| LIPE | 1 | Sep 5, 2023 |
| LIPE-AS1 | 1 | Sep 5, 2023 |
| LOC106096416 | 1 | Mar 19, 2024 |
| LOC106099062 | 1 | Jun 9, 2023 |
| LOC106501713 | 1 | Jul 5, 2023 |
| LOC106780800 | 2 | Jul 26, 2023 |
| LOC107133510 | 1 | Jun 9, 2023 |
| LOC111674477 | 1 | Jul 4, 2023 |
| LOC112543470 | 1 | Jul 12, 2023 |
| LOC126806068 | 1 | Aug 15, 2023 |
| LOC126861615 | 1 | Aug 29, 2023 |
| LOC126862264 | 2 | Jul 18, 2023 |
| LOC129992871 | 1 | Jul 11, 2023 |
| LOC130056921 | 1 | Aug 31, 2023 |
| LOC130064595 | 1 | Nov 7, 2023 |
| LOC130065540 | 1 | Nov 24, 2023 |
| MAGEL2 | 1 | Jul 20, 2023 |
| MAT1A | 1 | Jul 4, 2023 |
| MEA1 | 1 | Jun 13, 2023 |
| MEFV | 3 | Jul 18, 2023 |
| MPI | 1 | Jun 13, 2023 |
| MRPL44 | 1 | Jul 21, 2023 |
| MUTYH | 2 | Aug 31, 2023 |
| MVK | 1 | Aug 31, 2023 |
| NAPB | 1 | Nov 24, 2023 |
| NGLY1 | 1 | Aug 31, 2023 |
| NPHS1 | 2 | Jul 6, 2023 |
| NR2E3 | 1 | Jun 8, 2023 |
| OCA2 | 1 | Jun 8, 2023 |
| OCRL | 1 | Sep 5, 2023 |
| OGDHL | 1 | Sep 19, 2023 |
| PAH | 3 | Sep 19, 2023 |
| PAX6 | 1 | Sep 11, 2023 |
| PCCB | 1 | Jul 12, 2023 |
| PEX1 | 1 | Sep 5, 2023 |
| PEX6 | 1 | Jul 6, 2023 |
| PHGDH | 1 | Sep 5, 2023 |
| PHYH | 1 | Jun 13, 2023 |
| PKLR | 1 | Jan 1, 2024 |
| PLEKHG2 | 1 | Aug 31, 2023 |
| PMS2 | 1 | Jul 20, 2023 |
| POR | 1 | Jul 6, 2023 |
| PPP2R5D | 1 | Jun 13, 2023 |
| PPP3CA | 1 | Jul 11, 2023 |
| PRF1 | 1 | Jun 13, 2023 |
| PRKN | 1 | Jun 8, 2023 |
| PRNP | 1 | Aug 30, 2023 |
| PRODH | 1 | Jul 6, 2023 |
| PTPN23 | 1 | Aug 15, 2023 |
| RAG2 | 1 | Aug 31, 2023 |
| RANBP2 | 1 | Aug 31, 2023 |
| RET | 1 | Aug 29, 2023 |
| RFX5 | 1 | Jan 1, 2024 |
| RNPC3 | 1 | Mar 19, 2024 |
| RPGR | 1 | Mar 19, 2024 |
| RYR2 | 1 | Aug 15, 2023 |
| SAMD9 | 1 | Nov 24, 2023 |
| SCN3A | 2 | Jul 20, 2023 |
| SCN4A | 1 | Jul 11, 2023 |
| SGSH | 1 | Jul 21, 2023 |
| SLC26A1 | 1 | Dec 26, 2023 |
| SLC34A2 | 1 | Jul 21, 2023 |
| SLC34A3 | 1 | Nov 28, 2023 |
| SLC3A1 | 2 | Dec 26, 2023 |
| SLIT3 | 1 | Jan 10, 2021 |
| SPG7 | 1 | Sep 19, 2023 |
| SPINK1 | 1 | Jul 20, 2023 |
| SPTBN4 | 1 | Jul 18, 2023 |
| TAP1 | 1 | Mar 19, 2024 |
| TBR1 | 1 | Nov 7, 2023 |
| TMEM70 | 1 | Jul 21, 2023 |
| TNFRSF11A | 1 | Jul 12, 2023 |
| TRAPPC12 | 1 | Jul 4, 2023 |
| TRAPPC2L | 1 | Nov 14, 2023 |
| TRIM71 | 1 | Jul 6, 2023 |
| TTN | 3 | Dec 26, 2023 |
| TTN-AS1 | 2 | Nov 7, 2023 |
| TYR | 1 | Sep 5, 2023 |
| UGT1A | 1 | Jun 13, 2023 |
| UGT1A1 | 1 | Jun 13, 2023 |
| UGT1A10 | 1 | Jun 13, 2023 |
| UGT1A3 | 1 | Jun 13, 2023 |
| UGT1A4 | 1 | Jun 13, 2023 |
| UGT1A5 | 1 | Jun 13, 2023 |
| UGT1A6 | 1 | Jun 13, 2023 |
| UGT1A7 | 1 | Jun 13, 2023 |
| UGT1A8 | 1 | Jun 13, 2023 |
| UGT1A9 | 1 | Jun 13, 2023 |
| UPB1 | 1 | Jul 12, 2023 |
| USH2A | 1 | Jul 11, 2023 |
| VARS1 | 1 | Jul 6, 2023 |
| VDR | 1 | Oct 10, 2023 |
| ZNF341 | 1 | Mar 19, 2024 |
Condition
Testing in GTR
| Disease name | Number of tests |
|---|---|
| 11p partial monosomy syndrome | 2 tests |
| 15q11q13 microduplication syndrome | 2 tests |
| 2-aminoadipic 2-oxoadipic aciduria | 2 tests |
| 2-hydroxyglutaric aciduria | 2 tests |
| 3 beta-Hydroxysteroid dehydrogenase deficiency | 2 tests |
| 3-Methylglutaconic aciduria type 2 | 2 tests |
| 3-Methylglutaconic aciduria type 3 | 2 tests |
| 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 2 tests |
| 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | 2 tests |
| 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2 tests |
| 3-methylcrotonyl-CoA carboxylase 2 deficiency | 2 tests |
| 3-methylglutaconic aciduria type 1 | 2 tests |
| 3-methylglutaconic aciduria type 5 | 2 tests |
| 3-methylglutaconic aciduria type 8 | 2 tests |
| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 2 tests |
| 3-methylglutaconic aciduria, type VIIB | 2 tests |
| 3M syndrome 1 | 2 tests |
| 3M syndrome 2 | 2 tests |
| 3M syndrome 3 | 2 tests |
| 3MC syndrome 1 | 2 tests |
| 3MC syndrome 2 | 2 tests |
| 3MC syndrome 3 | 1 test |
| 3p- syndrome | 2 tests |
| 46,XX ovarian dysgenesis-short stature syndrome | 1 test |
| 46,XX sex reversal 1 | 4 tests |
| 46,XX sex reversal 3 | 2 tests |
| 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency | 6 tests |
| 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome | 2 tests |
| 46,XY sex reversal 1 | 2 tests |
| 46,XY sex reversal 2 | 3 tests |
| 46,XY sex reversal 3 | 4 tests |
| 46,XY sex reversal 4 | 2 tests |
| 46,XY sex reversal 5 | 2 tests |
| 46,XY sex reversal 6 | 2 tests |
| 46,XY sex reversal 7 | 2 tests |
| 46,XY sex reversal 9 | 3 tests |
| 5-Oxoprolinase deficiency | 2 tests |
| 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 2 tests |
| 7q11.23 microduplication syndrome | 2 tests |
| 8q22.1 microdeletion syndrome | 1 test |
| 8q24.3 microdeletion syndrome | 2 tests |
| ABCD syndrome | 4 tests |
| ABri amyloidosis | 1 test |
| ACTH-independent macronodular adrenal hyperplasia 2 | 1 test |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 2 tests |
| ADULT syndrome | 2 tests |
| ADan amyloidosis | 1 test |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 2 tests |
| AICA-ribosiduria | 2 tests |
| ALDH18A1-related de Barsy syndrome | 2 tests |
| ALG1-congenital disorder of glycosylation | 2 tests |
| ALG11-congenital disorder of glycosylation | 2 tests |
| ALG12-congenital disorder of glycosylation | 2 tests |
| ALG2-congenital disorder of glycosylation | 2 tests |
| ALG3-congenital disorder of glycosylation | 2 tests |
| ALG6-congenital disorder of glycosylation 1C | 2 tests |
| ALG8 congenital disorder of glycosylation | 2 tests |
| ALG9 congenital disorder of glycosylation | 3 tests |
| ANE syndrome | 2 tests |
| Aarskog syndrome | 6 tests |
| Abdominal obesity-metabolic syndrome 3 | 1 test |
| Abetalipoproteinaemia | 2 tests |
| Ablepharon macrostomia syndrome | 1 test |
| Abortive cerebellar ataxia | 8 tests |
| Abruzzo-Erickson syndrome | 2 tests |
| Absence seizure | 1 test |
| Acatalasia | 2 tests |
| Accelerated tumor formation, susceptibility to | 2 tests |
| Acetyl-CoA acetyltransferase-2 deficiency | 2 tests |
| Acetyl-CoA: carboxylase deficiency | 2 tests |
| Acheiropodia | 3 tests |
| Achondrogenesis type II | 4 tests |
| Achondrogenesis, type IA | 2 tests |
| Achondrogenesis, type IB | 2 tests |
| Achromatopsia 2 | 1 test |
| Achromatopsia 3 | 1 test |
| Achromatopsia 4 | 1 test |
| Achromatopsia 7 | 1 test |
| Acid phosphatase deficiency | 2 tests |
| Acne inversa, familial, 1 | 1 test |
| Acne inversa, familial, 2 | 1 test |
| Acne inversa, familial, 3 | 2 tests |
| Acquired hemoglobin H disease | 2 tests |
| Acquired partial lipodystrophy | 1 test |
| Acquired polycythemia vera | 1 test |
| Acral peeling skin syndrome | 1 test |
| Acrocallosal syndrome | 4 tests |
| Acrocapitofemoral dysplasia | 2 tests |
| Acrocephalosyndactyly type I | 6 tests |
| Acrodysostosis 1 with or without hormone resistance | 3 tests |
| Acrodysostosis 2 with or without hormone resistance | 2 tests |
| Acroerythrokeratoderma | 1 test |
| Acrofacial dysostosis Cincinnati type | 2 tests |
| Acrokeratosis verruciformis of Hopf | 1 test |
| Acromelic frontonasal dysostosis | 2 tests |
| Acromesomelic dysplasia 1, Maroteaux type | 2 tests |
| Acromesomelic dysplasia 2B | 2 tests |
| Acromesomelic dysplasia 2C, Hunter-Thompson type | 2 tests |
| Acromesomelic dysplasia 3 | 2 tests |
| Acromicric dysplasia | 4 tests |
| Acroosteolysis-keloid-like lesions-premature aging syndrome | 1 test |
| Actin accumulation myopathy | 4 tests |
| Action myoclonus-renal failure syndrome | 2 tests |
| Acute febrile mucocutaneous lymph node syndrome | 1 test |
| Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 2 tests |
| Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | 1 test |
| Acute intermittent porphyria | 8 tests |
| Acute lymphoid leukemia | 7 tests |
| Acute myeloid leukemia | 27 tests |
| Acute promyelocytic leukemia | 2 tests |
| Acyl-CoA dehydrogenase 9 deficiency | 2 tests |
| Acyl-CoA oxidase deficiency | 2 tests |
| Adams-Oliver syndrome 1 | 2 tests |
| Adams-Oliver syndrome 2 | 2 tests |
| Adams-Oliver syndrome 3 | 2 tests |
| Adams-Oliver syndrome 4 | 2 tests |
| Adams-Oliver syndrome 5 | 2 tests |
| Adams-Oliver syndrome 6 | 2 tests |
| Adenine phosphoribosyltransferase deficiency | 3 tests |
| Adenosine kinase deficiency | 2 tests |
| Adenylosuccinate lyase deficiency | 2 tests |
| Adermatoglyphia | 1 test |
| Adiponectin deficiency | 1 test |
| Adrenocortical carcinoma, hereditary | 2 tests |
| Adrenoleukodystrophy | 4 tests |
| Adult hypophosphatasia | 3 tests |
| Adult neuronal ceroid lipofuscinosis | 4 tests |
| Adult polyglucosan body disease | 2 tests |
| Adult-onset autosomal dominant demyelinating leukodystrophy | 4 tests |
| Adult-onset foveomacular vitelliform dystrophy | 2 tests |
| Adult-onset proximal spinal muscular atrophy, autosomal dominant | 2 tests |
| Advanced sleep phase syndrome 1 | 1 test |
| Advanced sleep phase syndrome 2 | 1 test |
| Advanced sleep phase syndrome 3 | 1 test |
| Afibrinogenemia | 4 tests |
| Agammaglobulinemia 2, autosomal recessive | 2 tests |
| Agammaglobulinemia 3, autosomal recessive | 2 tests |
| Agammaglobulinemia 4, autosomal recessive | 2 tests |
| Agammaglobulinemia 5, autosomal dominant | 2 tests |
| Agammaglobulinemia 6, autosomal recessive | 2 tests |
| Agammaglobulinemia 7, autosomal recessive | 2 tests |
| Agammaglobulinemia 8, autosomal dominant | 2 tests |
| Age related macular degeneration 1 | 6 tests |
| Age related macular degeneration 11 | 1 test |
| Age related macular degeneration 12 | 2 tests |
| Age related macular degeneration 13 | 2 tests |
| Age related macular degeneration 14 | 2 tests |
| Age related macular degeneration 15 | 1 test |
| Age related macular degeneration 2 | 2 tests |
| Age related macular degeneration 4 | 2 tests |
| Age related macular degeneration 5 | 1 test |
| Age related macular degeneration 6 | 1 test |
| Age related macular degeneration 7 | 1 test |
| Age related macular degeneration 8 | 1 test |
| Age related macular degeneration 9 | 1 test |
| Agenesis of the corpus callosum with peripheral neuropathy | 2 tests |
| Agnathia-otocephaly complex | 2 tests |
| Aicardi-Goutieres syndrome 1 | 5 tests |
| Aicardi-Goutieres syndrome 2 | 4 tests |
| Aicardi-Goutieres syndrome 3 | 4 tests |
| Aicardi-Goutieres syndrome 4 | 4 tests |
| Aicardi-Goutieres syndrome 5 | 4 tests |
| Aicardi-Goutieres syndrome 6 | 2 tests |
| Aicardi-Goutieres syndrome 7 | 2 tests |
| Al-Raqad syndrome | 2 tests |
| Alacrima, achalasia, and intellectual disability syndrome | 2 tests |
| Alagille syndrome due to a JAG1 point mutation | 6 tests |
| Alagille syndrome due to a NOTCH2 point mutation | 2 tests |
| Aland island eye disease | 1 test |
| Alazami-Yuan syndrome | 2 tests |
| Alcohol dependence | 6 tests |
| Alcohol sensitivity, acute | 4 tests |
| Aldosterone-producing adenoma with seizures and neurological abnormalities | 2 tests |
| Alexander disease | 2 tests |
| Allan-Herndon-Dudley syndrome | 2 tests |
| Allergic rhinitis | 1 test |
| Alopecia universalis congenita | 1 test |
| Alpha thalassemia-X-linked intellectual disability syndrome | 4 tests |
| Alpha thalassemia-intellectual disability syndrome type 1 | 2 tests |
| Alpha-1-antitrypsin deficiency | 6 tests |
| Alpha-2-macroglobulin deficiency | 2 tests |
| Alpha-2-plasmin inhibitor deficiency | 1 test |
| Alpha-N-acetylgalactosaminidase deficiency type 1 | 4 tests |
| Alpha-N-acetylgalactosaminidase deficiency type 2 | 2 tests |
| Alpha-fetoprotein deficiency | 2 tests |
| Alpha-methylacyl-CoA racemase deficiency | 2 tests |
| Alstrom syndrome | 2 tests |
| Alternating hemiplegia of childhood 1 | 2 tests |
| Alternating hemiplegia of childhood 2 | 4 tests |
| Alveolar capillary dysplasia with pulmonary venous misalignment | 4 tests |
| Alveolar rhabdomyosarcoma | 4 tests |
| Alveolar soft part sarcoma | 1 test |
| Alzheimer disease | 10 tests |
| Alzheimer disease 18 | 1 test |
| Alzheimer disease 2 | 1 test |
| Alzheimer disease 3 | 6 tests |
| Alzheimer disease 4 | 1 test |
| Alzheimer disease 9 | 1 test |
| Amelocerebrohypohidrotic syndrome | 2 tests |
| Amelogenesis imperfecta - hypoplastic autosomal dominant - local | 1 test |
| Amelogenesis imperfecta hypomaturation type 2A2 | 1 test |
| Amelogenesis imperfecta hypomaturation type 2A3 | 1 test |
| Amelogenesis imperfecta hypomaturation type 2A4 | 1 test |
| Amelogenesis imperfecta hypomaturation type 2A5 | 1 test |
| Amelogenesis imperfecta type 1A | 2 tests |
| Amelogenesis imperfecta type 1C | 1 test |
| Amelogenesis imperfecta type 1E | 1 test |
| Amelogenesis imperfecta type 1F | 1 test |
| Amelogenesis imperfecta type 1G | 1 test |
| Amelogenesis imperfecta type 1H | 1 test |
| Amelogenesis imperfecta type 2A1 | 1 test |
| Amelogenesis imperfecta, hypocalcification type | 1 test |
| Amelogenesis imperfecta, hypomaturation type, IIa6 | 1 test |
| Amelogenesis imperfecta, type 1J | 1 test |
| Aminoacylase 1 deficiency | 2 tests |
| Aminoglycoside-induced deafness | 1 test |
| Amish lethal microcephaly | 3 tests |
| Amyloidosis, hereditary systemic 1 | 1 test |
| Amyloidosis, primary localized cutaneous, 1 | 1 test |
| Amyloidosis, primary localized cutaneous, 2 | 1 test |
| Amyotrophic lateral sclerosis type 1 | 4 tests |
| Amyotrophic lateral sclerosis type 10 | 2 tests |
| Amyotrophic lateral sclerosis type 11 | 1 test |
| Amyotrophic lateral sclerosis type 12 | 1 test |
| Amyotrophic lateral sclerosis type 15 | 1 test |
| Amyotrophic lateral sclerosis type 16 | 1 test |
| Amyotrophic lateral sclerosis type 18 | 1 test |
| Amyotrophic lateral sclerosis type 19 | 1 test |
| Amyotrophic lateral sclerosis type 2, juvenile | 1 test |
| Amyotrophic lateral sclerosis type 20 | 1 test |
| Amyotrophic lateral sclerosis type 21 | 1 test |
| Amyotrophic lateral sclerosis type 22 | 1 test |
| Amyotrophic lateral sclerosis type 4 | 2 tests |
| Amyotrophic lateral sclerosis type 5 | 2 tests |
| Amyotrophic lateral sclerosis type 6 | 1 test |
| Amyotrophic lateral sclerosis type 8 | 1 test |
| Amyotrophic lateral sclerosis type 9 | 1 test |
| Amyotrophic lateral sclerosis-parkinsonism-dementia complex | 1 test |
| Analbuminemia | 2 tests |
| Anaphylotoxin inactivator deficiency | 2 tests |
| Anauxetic dysplasia 1 | 2 tests |
| Andersen Tawil syndrome | 4 tests |
| Androgen resistance syndrome | 4 tests |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 2 tests |
| Aneurysm-osteoarthritis syndrome | 2 tests |
| Angelman syndrome | 2 tests |
| Angiomatoid fibrous histiocytoma | 1 test |
| Anhaptoglobinemia | 2 tests |
| Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome | 8 tests |
| Aniridia 1 | 4 tests |
| Aniridia 2 | 1 test |
| Aniridia 3 | 1 test |
| Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | 2 tests |
| Ankylosing spondylitis | 1 test |
| Annular epidermolytic ichthyosis | 2 tests |
| Anonychia | 1 test |
| Anophthalmia/microphthalmia-esophageal atresia syndrome | 6 tests |
| Anorexia nervosa, susceptibility to, 1 | 1 test |
| Anterior segment dysgenesis 1 | 1 test |
| Anterior segment dysgenesis 3 | 2 tests |
| Anterior segment dysgenesis 4 | 2 tests |
| Anterior segment dysgenesis 6 | 2 tests |
| Anterior segment dysgenesis 7 | 1 test |
| Anterior segment dysgenesis 8 | 1 test |
| Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 4 tests |
| Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | 2 tests |
| Anxiety | 1 test |
| Aortic aneurysm, familial thoracic 10 | 1 test |
| Aortic aneurysm, familial thoracic 11, susceptibility to | 1 test |
| Aortic aneurysm, familial thoracic 4 | 1 test |
| Aortic aneurysm, familial thoracic 6 | 1 test |
| Aortic aneurysm, familial thoracic 7 | 1 test |
| Aortic aneurysm, familial thoracic 8 | 1 test |
| Aortic aneurysm, familial thoracic 9 | 1 test |
| Aortic valve disease 1 | 1 test |
| Aortic valve disease 2 | 1 test |
| Aplasia cutis congenita | 2 tests |
| Aplastic anemia | 10 tests |
| Apolipoprotein c-III deficiency | 1 test |
| Apparent mineralocorticoid excess | 2 tests |
| Arginase deficiency | 2 tests |
| Arginine:glycine amidinotransferase deficiency | 2 tests |
| Argininosuccinate lyase deficiency | 2 tests |
| Aromatase deficiency | 2 tests |
| Aromatase excess syndrome | 2 tests |
| Arrhinia with choanal atresia and microphthalmia syndrome | 2 tests |
| Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 4 tests |
| Arrhythmogenic right ventricular dysplasia 1 | 1 test |
| Arrhythmogenic right ventricular dysplasia 10 | 1 test |
| Arrhythmogenic right ventricular dysplasia 11 | 2 tests |
| Arrhythmogenic right ventricular dysplasia 12 | 1 test |
| Arrhythmogenic right ventricular dysplasia 13 | 1 test |
| Arrhythmogenic right ventricular dysplasia 2 | 1 test |
| Arrhythmogenic right ventricular dysplasia 5 | 1 test |
| Arrhythmogenic right ventricular dysplasia 8 | 2 tests |
| Arrhythmogenic right ventricular dysplasia 9 | 2 tests |
| Arterial calcification, generalized, of infancy, 1 | 3 tests |
| Arterial calcification, generalized, of infancy, 2 | 4 tests |
| Arterial tortuosity syndrome | 2 tests |
| Arthrogryposis, Perthes disease, and upward gaze palsy | 2 tests |
| Arthrogryposis, distal, type 1A | 2 tests |
| Arthrogryposis, distal, type 1B | 2 tests |
| Arthrogryposis, distal, with impaired proprioception and touch | 2 tests |
| Arthrogryposis, renal dysfunction, and cholestasis 1 | 2 tests |
| Arthrogryposis, renal dysfunction, and cholestasis 2 | 2 tests |
| Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | 2 tests |
| Arts syndrome | 3 tests |
| Aspartate aminotransferase, serum level of, quantitative trait locus 1 | 2 tests |
| Aspartylglucosaminuria | 2 tests |
| Asperger syndrome, X-linked, susceptibility to, 1 | 2 tests |
| Asperger syndrome, X-linked, susceptibility to, 2 | 2 tests |
| Aspergillosis, susceptibility to | 2 tests |
| Asphyxiating thoracic dystrophy 2 | 2 tests |
| Asphyxiating thoracic dystrophy 3 | 2 tests |
| Asphyxiating thoracic dystrophy 4 | 2 tests |
| Asphyxiating thoracic dystrophy 5 | 2 tests |
| Asthma, nasal polyps, and aspirin intolerance | 3 tests |
| Asthma-related traits, susceptibility to, 1 | 1 test |
| Asthma-related traits, susceptibility to, 2 | 1 test |
| Asthma-related traits, susceptibility to, 5 | 1 test |
| Asthma-related traits, susceptibility to, 7 | 1 test |
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 2 tests |
| Ataxia - oculomotor apraxia type 4 | 1 test |
| Ataxia with oculomotor apraxia type 3 | 1 test |
| Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | 2 tests |
| Ataxia-hypogonadism-choroidal dystrophy syndrome | 1 test |
| Ataxia-pancytopenia syndrome | 2 tests |
| Ataxia-telangiectasia syndrome | 7 tests |
| Ataxia-telangiectasia-like disorder 1 | 2 tests |
| Ataxia-telangiectasia-like disorder 2 | 2 tests |
| Ateleiotic dwarfism | 2 tests |
| Atelosteogenesis type I | 4 tests |
| Atelosteogenesis type II | 4 tests |
| Atelosteogenesis type III | 4 tests |
| Atransferrinemia | 2 tests |
| Atrial conduction disease | 1 test |
| Atrial fibrillation, familial, 10 | 2 tests |
| Atrial fibrillation, familial, 11 | 1 test |
| Atrial fibrillation, familial, 12 | 1 test |
| Atrial fibrillation, familial, 13 | 1 test |
| Atrial fibrillation, familial, 14 | 1 test |
| Atrial fibrillation, familial, 15 | 1 test |
| Atrial fibrillation, familial, 18 | 1 test |
| Atrial fibrillation, familial, 3 | 1 test |
| Atrial fibrillation, familial, 4 | 1 test |
| Atrial fibrillation, familial, 6 | 1 test |
| Atrial fibrillation, familial, 7 | 1 test |
| Atrial fibrillation, familial, 9 | 2 tests |
| Atrial septal defect 2 | 2 tests |
| Atrial septal defect 3 | 1 test |
| Atrial septal defect 4 | 1 test |
| Atrial septal defect 5 | 1 test |
| Atrial septal defect 6 | 1 test |
| Atrial septal defect 7 | 2 tests |
| Atrial septal defect 8 | 1 test |
| Atrial septal defect 9 | 1 test |
| Atrial standstill 1 | 1 test |
| Atrial standstill 2 | 1 test |
| Atrichia with papular lesions | 1 test |
| Atrioventricular septal defect 4 | 2 tests |
| Atrioventricular septal defect 5 | 1 test |
| Atrioventricular septal defect and common atrioventricular junction | 2 tests |
| Atrioventricular septal defect, susceptibility to, 2 | 4 tests |
| Atrophia bulborum hereditaria | 1 test |
| Attention deficit hyperactivity disorder | 4 tests |
| Attention deficit-hyperactivity disorder, susceptibility to, 7 | 1 test |
| Atypical glycine encephalopathy | 2 tests |
| Atypical hemolytic-uremic syndrome with B factor anomaly | 2 tests |
| Atypical hemolytic-uremic syndrome with C3 anomaly | 2 tests |
| Atypical hemolytic-uremic syndrome with I factor anomaly | 2 tests |
| Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly | 2 tests |
| Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | 2 tests |
| Au-Kline syndrome | 2 tests |
| Aural atresia, congenital | 1 test |
| Auriculocondylar syndrome 1 | 1 test |
| Auriculocondylar syndrome 2 | 1 test |
| Auriculocondylar syndrome 3 | 2 tests |
| Autism spectrum disorder - epilepsy - arthrogryposis syndrome | 2 tests |
| Autism spectrum disorder due to AUTS2 deficiency | 2 tests |
| Autism, susceptibility to, 15 | 4 tests |
| Autism, susceptibility to, 16 | 2 tests |
| Autism, susceptibility to, 17 | 2 tests |
| Autism, susceptibility to, 19 | 2 tests |
| Autism, susceptibility to, X-linked 1 | 2 tests |
| Autism, susceptibility to, X-linked 2 | 4 tests |
| Autism, susceptibility to, X-linked 3 | 4 tests |
| Autism, susceptibility to, X-linked 4 | 2 tests |
| Autism, susceptibility to, X-linked 5 | 2 tests |
| Autoimmune disease, multisystem, infantile-onset, 2 | 1 test |
| Autoimmune disease, susceptibility to, 1 | 1 test |
| Autoimmune disease, susceptibility to, 6 | 1 test |
| Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | 2 tests |
| Autoimmune interstitial lung disease-arthritis syndrome | 2 tests |
| Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | 2 tests |
| Autoimmune lymphoproliferative syndrome type 1 | 5 tests |
| Autoimmune lymphoproliferative syndrome type 2A | 2 tests |
| Autoimmune lymphoproliferative syndrome type 2B | 2 tests |
| Autoimmune lymphoproliferative syndrome type 4 | 6 tests |
| Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD | 2 tests |
| Autoimmune thrombocytopenia | 1 test |
| Autoimmune thyroid disease, susceptibility to, 3 | 2 tests |
| Autoinflammation with arthritis and dyskeratosis | 2 tests |
| Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | 2 tests |
| Autoinflammatory syndrome, familial, Behcet-like | 1 test |
| Autosomal dominant Alport syndrome | 4 tests |
| Autosomal dominant Charcot-Marie-Tooth disease type 2W | 1 test |
| Autosomal dominant Kenny-Caffey syndrome | 2 tests |
| Autosomal dominant Opitz G/BBB syndrome | 2 tests |
| Autosomal dominant Parkinson disease 1 | 2 tests |
| Autosomal dominant Parkinson disease 4 | 2 tests |
| Autosomal dominant Parkinson disease 8 | 1 test |
| Autosomal dominant Robinow syndrome 1 | 2 tests |
| Autosomal dominant Robinow syndrome 2 | 2 tests |
| Autosomal dominant Robinow syndrome 3 | 2 tests |
| Autosomal dominant aplasia and myelodysplasia | 2 tests |
| Autosomal dominant auditory neuropathy 1 | 1 test |
| Autosomal dominant centronuclear myopathy | 4 tests |
| Autosomal dominant cerebellar ataxia, deafness and narcolepsy | 2 tests |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | 2 tests |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 2 tests |
| Autosomal dominant deafness - onychodystrophy syndrome | 1 test |
| Autosomal dominant distal renal tubular acidosis | 2 tests |
| Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | 1 test |
| Autosomal dominant hypocalcemia 1 | 6 tests |
| Autosomal dominant hypocalcemia 2 | 1 test |
| Autosomal dominant hypophosphatemic rickets | 4 tests |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 2 tests |
| Autosomal dominant isolated somatotropin deficiency | 2 tests |
| Autosomal dominant keratitis | 2 tests |
| Autosomal dominant keratitis-ichthyosis-hearing loss syndrome | 1 test |
| Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | 1 test |
| Autosomal dominant limb-girdle muscular dystrophy type 1F | 1 test |
| Autosomal dominant limb-girdle muscular dystrophy type 1G | 1 test |
| Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency | 2 tests |
| Autosomal dominant mitochondrial myopathy with exercise intolerance | 2 tests |
| Autosomal dominant nocturnal frontal lobe epilepsy 1 | 2 tests |
| Autosomal dominant nocturnal frontal lobe epilepsy 3 | 2 tests |
| Autosomal dominant nocturnal frontal lobe epilepsy 4 | 1 test |
| Autosomal dominant nocturnal frontal lobe epilepsy 5 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 1 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 10 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 11 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 12 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 13 | 2 tests |
| Autosomal dominant nonsyndromic hearing loss 15 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 17 | 2 tests |
| Autosomal dominant nonsyndromic hearing loss 20 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 22 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 23 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 25 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 28 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 2A | 1 test |
| Autosomal dominant nonsyndromic hearing loss 2B | 2 tests |
| Autosomal dominant nonsyndromic hearing loss 36 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 3A | 1 test |
| Autosomal dominant nonsyndromic hearing loss 3B | 1 test |
| Autosomal dominant nonsyndromic hearing loss 40 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 41 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 44 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 4A | 1 test |
| Autosomal dominant nonsyndromic hearing loss 4B | 1 test |
| Autosomal dominant nonsyndromic hearing loss 5 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 50 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 51 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 56 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 6 | 2 tests |
| Autosomal dominant nonsyndromic hearing loss 64 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 65 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 66 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 67 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 68 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 69 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 70 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 9 | 1 test |
| Autosomal dominant optic atrophy classic form | 2 tests |
| Autosomal dominant osteopetrosis 1 | 2 tests |
| Autosomal dominant osteopetrosis 2 | 2 tests |
| Autosomal dominant pseudohypoaldosteronism type 1 | 1 test |
| Autosomal dominant sensory ataxia 1 | 1 test |
| Autosomal dominant sideroblastic anemia | 2 tests |
| Autosomal dominant slowed nerve conduction velocity | 1 test |
| Autosomal dominant striatal neurodegeneration type 1 | 2 tests |
| Autosomal dominant vitreoretinochoroidopathy | 4 tests |
| Autosomal dominant wooly hair | 1 test |
| Autosomal recessive Alport syndrome | 10 tests |
| Autosomal recessive DOPA responsive dystonia | 4 tests |
| Autosomal recessive Kenny-Caffey syndrome | 2 tests |
| Autosomal recessive Parkinson disease 14 | 2 tests |
| Autosomal recessive Robinow syndrome | 4 tests |
| Autosomal recessive agammaglobulinemia 1 | 2 tests |
| Autosomal recessive ataxia due to ubiquinone deficiency | 2 tests |
| Autosomal recessive ataxia, Beauce type | 1 test |
| Autosomal recessive axonal neuropathy with neuromyotonia | 2 tests |
| Autosomal recessive bestrophinopathy | 2 tests |
| Autosomal recessive complex spastic paraplegia type 9B | 1 test |
| Autosomal recessive congenital ichthyosis 1 | 2 tests |
| Autosomal recessive congenital ichthyosis 10 | 2 tests |
| Autosomal recessive congenital ichthyosis 11 | 2 tests |
| Autosomal recessive congenital ichthyosis 2 | 2 tests |
| Autosomal recessive congenital ichthyosis 3 | 2 tests |
| Autosomal recessive congenital ichthyosis 4A | 2 tests |
| Autosomal recessive congenital ichthyosis 4B | 2 tests |
| Autosomal recessive congenital ichthyosis 5 | 2 tests |
| Autosomal recessive congenital ichthyosis 6 | 2 tests |
| Autosomal recessive congenital ichthyosis 8 | 2 tests |
| Autosomal recessive congenital ichthyosis 9 | 2 tests |
| Autosomal recessive cutis laxa type 2B | 2 tests |
| Autosomal recessive distal renal tubular acidosis | 1 test |
| Autosomal recessive distal spinal muscular atrophy 1 | 2 tests |
| Autosomal recessive distal spinal muscular atrophy 2 | 2 tests |
| Autosomal recessive early-onset Parkinson disease 23 | 1 test |
| Autosomal recessive early-onset Parkinson disease 6 | 2 tests |
| Autosomal recessive early-onset Parkinson disease 7 | 2 tests |
| Autosomal recessive hypophosphatemic bone disease | 1 test |
| Autosomal recessive inherited pseudoxanthoma elasticum | 4 tests |
| Autosomal recessive juvenile Parkinson disease 2 | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2C | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2D | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2E | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2F | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2G | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2I | 4 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2K | 4 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2L | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2M | 4 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2N | 4 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2O | 4 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2P | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2Q | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2R1 | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2T | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2U | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2W | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2X | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2Y | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type R18 | 1 test |
| Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency | 2 tests |
| Autosomal recessive multiple pterygium syndrome | 2 tests |
| Autosomal recessive nonsyndromic hearing loss 101 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 102 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 103 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 104 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 12 | 2 tests |
| Autosomal recessive nonsyndromic hearing loss 15 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 16 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 18A | 1 test |
| Autosomal recessive nonsyndromic hearing loss 18B | 1 test |
| Autosomal recessive nonsyndromic hearing loss 1A | 4 tests |
| Autosomal recessive nonsyndromic hearing loss 1B | 1 test |
| Autosomal recessive nonsyndromic hearing loss 2 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 21 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 22 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 23 | 2 tests |
| Autosomal recessive nonsyndromic hearing loss 24 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 25 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 28 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 29 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 3 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 30 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 31 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 35 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 36 | 2 tests |
| Autosomal recessive nonsyndromic hearing loss 37 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 39 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 4 | 4 tests |
| Autosomal recessive nonsyndromic hearing loss 42 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 44 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 48 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 49 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 53 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 59 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 6 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 61 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 63 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 66 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 67 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 68 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 7 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 70 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 74 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 76 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 77 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 79 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 8 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 84A | 1 test |
| Autosomal recessive nonsyndromic hearing loss 84B | 1 test |
| Autosomal recessive nonsyndromic hearing loss 86 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 88 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 89 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 9 | 2 tests |
| Autosomal recessive nonsyndromic hearing loss 91 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 93 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 97 | 2 tests |
| Autosomal recessive nonsyndromic hearing loss 98 | 1 test |
| Autosomal recessive omodysplasia | 2 tests |
| Autosomal recessive optic atrophy, OPA7 type | 1 test |
| Autosomal recessive osteopetrosis 1 | 2 tests |
| Autosomal recessive osteopetrosis 2 | 2 tests |
| Autosomal recessive osteopetrosis 4 | 2 tests |
| Autosomal recessive osteopetrosis 5 | 2 tests |
| Autosomal recessive osteopetrosis 6 | 2 tests |
| Autosomal recessive osteopetrosis 7 | 2 tests |
| Autosomal recessive osteopetrosis 8 | 2 tests |
| Autosomal recessive polycystic kidney disease | 5 tests |
| Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity | 2 tests |
| Autosomal recessive proximal renal tubular acidosis | 1 test |
| Autosomal recessive severe congenital neutropenia due to CSF3R deficiency | 2 tests |
| Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | 4 tests |
| Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency | 2 tests |
| Autosomal recessive spastic paraplegia type 76 | 1 test |
| Autosomal recessive spastic paraplegia type 78 | 1 test |
| Autosomal recessive spinocerebellar ataxia 10 | 1 test |
| Autosomal recessive spinocerebellar ataxia 11 | 2 tests |
| Autosomal recessive spinocerebellar ataxia 12 | 4 tests |
| Autosomal recessive spinocerebellar ataxia 13 | 1 test |
| Autosomal recessive spinocerebellar ataxia 14 | 1 test |
| Autosomal recessive spinocerebellar ataxia 15 | 2 tests |
| Autosomal recessive spinocerebellar ataxia 16 | 1 test |
| Autosomal recessive spinocerebellar ataxia 17 | 1 test |
| Autosomal recessive spinocerebellar ataxia 18 | 1 test |
| Autosomal recessive spinocerebellar ataxia 2 | 1 test |
| Autosomal recessive spinocerebellar ataxia 20 | 2 tests |
| Autosomal recessive spinocerebellar ataxia 7 | 1 test |
| Autosomal recessive spondylometaphyseal dysplasia, Megarbane type | 2 tests |
| Autosomal systemic lupus erythematosus type 16 | 1 test |
| Avascular necrosis of femoral head, primary, 1 | 2 tests |
| Avascular necrosis of femoral head, primary, 2 | 1 test |
| Avellino corneal dystrophy | 1 test |
| Axenfeld-Rieger syndrome type 1 | 4 tests |
| Axenfeld-Rieger syndrome type 3 | 4 tests |
| Ayme-Gripp syndrome | 2 tests |
| Azorean disease | 2 tests |
| B4GALT1-congenital disorder of glycosylation | 2 tests |
| BAP1-related tumor predisposition syndrome | 2 tests |
| BENTA disease | 1 test |
| BLOOD GROUP--LUTHERAN INHIBITOR | 1 test |
| BNAR syndrome | 2 tests |
| Bacteremia, susceptibility to, 1 | 1 test |
| Bacteremia, susceptibility to, 2 | 1 test |
| Bailey-Bloch congenital myopathy | 1 test |
| Baller-Gerold syndrome | 2 tests |
| Bamforth-Lazarus syndrome | 4 tests |
| Band heterotopia of brain | 2 tests |
| Baraitser-Winter syndrome 1 | 2 tests |
| Baraitser-winter syndrome 2 | 2 tests |
| Barber-Say syndrome | 2 tests |
| Bardet-Biedl syndrome 1 | 8 tests |
| Bardet-Biedl syndrome 10 | 2 tests |
| Bardet-Biedl syndrome 11 | 2 tests |
| Bardet-Biedl syndrome 12 | 2 tests |
| Bardet-Biedl syndrome 13 | 2 tests |
| Bardet-Biedl syndrome 14 | 6 tests |
| Bardet-Biedl syndrome 15 | 4 tests |
| Bardet-Biedl syndrome 16 | 2 tests |
| Bardet-Biedl syndrome 17 | 2 tests |
| Bardet-Biedl syndrome 19 | 2 tests |
| Bardet-Biedl syndrome 2 | 2 tests |
| Bardet-Biedl syndrome 22 | 2 tests |
| Bardet-Biedl syndrome 3 | 2 tests |
| Bardet-Biedl syndrome 4 | 2 tests |
| Bardet-Biedl syndrome 5 | 2 tests |
| Bardet-Biedl syndrome 7 | 2 tests |
| Bardet-Biedl syndrome 8 | 2 tests |
| Bardet-Biedl syndrome 9 | 2 tests |
| Barrett esophagus | 3 tests |
| Bartsocas-Papas syndrome 1 | 2 tests |
| Bartter disease type 1 | 2 tests |
| Bartter disease type 2 | 2 tests |
| Bartter disease type 3 | 6 tests |
| Bartter disease type 4A | 3 tests |
| Bartter disease type 4B | 4 tests |
| Bartter disease type 5 | 2 tests |
| Basal cell carcinoma, susceptibility to, 1 | 4 tests |
| Basal cell carcinoma, susceptibility to, 7 | 3 tests |
| Basal ganglia calcification, idiopathic, 4 | 2 tests |
| Basal ganglia calcification, idiopathic, 5 | 2 tests |
| Basal ganglia calcification, idiopathic, 6 | 2 tests |
| Basal laminar drusen | 2 tests |
| Basan syndrome | 2 tests |
| Beaded hair | 3 tests |
| Beare-Stevenson cutis gyrata syndrome | 2 tests |
| Becker muscular dystrophy | 6 tests |
| Beckwith-Wiedemann syndrome | 14 tests |
| Benign familial hematuria | 2 tests |
| Benign hereditary chorea | 2 tests |
| Benign recurrent intrahepatic cholestasis type 1 | 1 test |
| Benign recurrent intrahepatic cholestasis type 2 | 1 test |
| Bent bone dysplasia syndrome 1 | 2 tests |
| Bernard Soulier syndrome | 4 tests |
| Bernard-Soulier syndrome, type A2, autosomal dominant | 1 test |
| Beta-D-mannosidosis | 2 tests |
| Beta-hydroxyisobutyryl-CoA deacylase deficiency | 2 tests |
| Beta-thalassemia-X-linked thrombocytopenia syndrome | 1 test |
| Bethlem myopathy 1A | 4 tests |
| Bethlem myopathy 2 | 2 tests |
| Bietti crystalline corneoretinal dystrophy | 1 test |
| Bifunctional peroxisomal enzyme deficiency | 2 tests |
| Bilateral frontoparietal polymicrogyria | 2 tests |
| Bilateral microtia-deafness-cleft palate syndrome | 2 tests |
| Bilateral parasagittal parieto-occipital polymicrogyria | 1 test |
| Bile acid malabsorption, primary, 1 | 1 test |
| Biotin-responsive basal ganglia disease | 2 tests |
| Biotinidase deficiency | 2 tests |
| Birbeck granule deficiency | 1 test |
| Birk-Barel syndrome | 2 tests |
| Birt-Hogg-Dube syndrome | 3 tests |
| Blau syndrome | 1 test |
| Bleeding disorder, platelet-type, 13, susceptibility to | 1 test |
| Blepharophimosis - intellectual disability syndrome, MKB type | 1 test |
| Blepharophimosis - intellectual disability syndrome, SBBYS type | 2 tests |
| Blepharophimosis, ptosis, and epicanthus inversus syndrome | 4 tests |
| Blepharospasm | 1 test |
| Blood group, I system | 1 test |
| Bloom syndrome | 2 tests |
| Blue color blindness | 1 test |
| Body mass index quantitative trait locus 10 | 1 test |
| Body mass index quantitative trait locus 11 | 1 test |
| Body mass index quantitative trait locus 12 | 1 test |
| Body mass index quantitative trait locus 14 | 1 test |
| Body mass index quantitative trait locus 18 | 1 test |
| Body mass index quantitative trait locus 4 | 1 test |
| Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency | 1 test |
| Bohring-Opitz syndrome | 2 tests |
| Bombay phenotype | 1 test |
| Bone fragility with contractures, arterial rupture, and deafness | 2 tests |
| Bone marrow failure syndrome 3 | 2 tests |
| Bone mineral density quantitative trait locus 1 | 4 tests |
| Bone mineral density quantitative trait locus 18 | 1 test |
| Bone osteosarcoma | 2 tests |
| Boomerang dysplasia | 4 tests |
| Borjeson-Forssman-Lehmann syndrome | 2 tests |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | 2 tests |
| Bothnia retinal dystrophy | 1 test |
| Bowen-Conradi syndrome | 2 tests |
| Brachydactyly type A1 | 1 test |
| Brachydactyly type A1C | 1 test |
| Brachydactyly type A1D | 1 test |
| Brachydactyly type B1 | 2 tests |
| Brachydactyly type B2 | 1 test |
| Brachydactyly type C | 1 test |
| Brachydactyly type D | 2 tests |
| Brachydactyly type E1 | 2 tests |
| Brachydactyly type E2 | 2 tests |
| Brachydactyly-arterial hypertension syndrome | 1 test |
| Brachydactyly-elbow wrist dysplasia syndrome | 1 test |
| Brachydactyly-syndactyly syndrome | 5 tests |
| Brachyolmia-amelogenesis imperfecta syndrome | 1 test |
| Brachyrachia (short spine dysplasia) | 1 test |
| Bradyopsia | 2 tests |
| Brain small vessel disease 1 with or without ocular anomalies | 2 tests |
| Brain-lung-thyroid syndrome | 4 tests |
| Branched-chain keto acid dehydrogenase kinase deficiency | 1 test |
| Branchiooculofacial syndrome | 2 tests |
| Branchiootic syndrome 1 | 8 tests |
| Branchiootic syndrome 3 | 2 tests |
| Branchiootorenal syndrome 1 | 4 tests |
| Branchiootorenal syndrome 2 | 2 tests |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 2 tests |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 2 tests |
| Breast-ovarian cancer, familial, susceptibility to, 3 | 1 test |
| Breast-ovarian cancer, familial, susceptibility to, 4 | 1 test |
| Breasts and/or nipples, aplasia or hypoplasia of, 2 | 1 test |
| Brittle cornea syndrome 1 | 1 test |
| Brittle cornea syndrome 2 | 1 test |
| Brody myopathy | 2 tests |
| Bronchiectasis with or without elevated sweat chloride 1 | 4 tests |
| Bronchiectasis with or without elevated sweat chloride 2 | 1 test |
| Brooke-Spiegler syndrome | 2 tests |
| Brown-Vialetto-van Laere syndrome 1 | 2 tests |
| Brown-Vialetto-van Laere syndrome 2 | 2 tests |
| Bruck syndrome 1 | 2 tests |
| Bruck syndrome 2 | 2 tests |
| Brugada syndrome 1 | 2 tests |
| Brugada syndrome 2 | 1 test |
| Brugada syndrome 3 | 1 test |
| Brugada syndrome 4 | 1 test |
| Brugada syndrome 5 | 2 tests |
| Brugada syndrome 6 | 1 test |
| Brugada syndrome 7 | 2 tests |
| Brugada syndrome 8 | 1 test |
| Brugada syndrome 9 | 1 test |
| Brunner syndrome | 3 tests |
| Budd-Chiari syndrome | 4 tests |
| Burkitt lymphoma | 1 test |
| Buruli ulcer, susceptibility to | 1 test |
| C syndrome | 2 tests |
| C1 inhibitor deficiency | 4 tests |
| C1Q deficiency | 6 tests |
| CBL-related disorder | 1 test |
| CCDC115-CDG | 2 tests |
| CEDNIK syndrome | 2 tests |
| CFHR5 deficiency | 2 tests |
| CHARGE syndrome | 6 tests |
| CHIME syndrome | 3 tests |
| CIDEC-related familial partial lipodystrophy | 1 test |
| CK syndrome | 2 tests |
| CLOVES syndrome | 3 tests |
| COACH syndrome 1 | 6 tests |
| CODAS syndrome | 2 tests |
| COG1 congenital disorder of glycosylation | 2 tests |
| COG4-congenital disorder of glycosylation | 2 tests |
| COG5-congenital disorder of glycosylation | 2 tests |
| COG6-congenital disorder of glycosylation | 2 tests |
| COG7 congenital disorder of glycosylation | 2 tests |
| COG8-congenital disorder of glycosylation | 2 tests |
| CYP2C19-related poor drug metabolism | 9 tests |
| Café-au-lait macules with pulmonary stenosis | 4 tests |
| Calcium oxalate urolithiasis | 1 test |
| Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | 2 tests |
| Camptodactyly-tall stature-scoliosis-hearing loss syndrome | 4 tests |
| Camptomelic dysplasia | 12 tests |
| Camptosynpolydactyly, complex | 2 tests |
| Candidiasis, familial, 6 | 2 tests |
| Candidiasis, familial, 8 | 2 tests |
| Candidiasis, familial, 9 | 2 tests |
| Capillary infantile hemangioma | 4 tests |
| Capillary malformation | 1 test |
| Capillary malformation-arteriovenous malformation 1 | 2 tests |
| Carcinoid tumor of intestine | 2 tests |
| Carcinoma of pancreas | 3 tests |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 2 tests |
| Cardiac arrhythmia, ankyrin-B-related | 2 tests |
| Cardiac valvular dysplasia, X-linked | 2 tests |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | 2 tests |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 2 tests |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 | 2 tests |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 | 2 tests |
| Cardiofaciocutaneous syndrome 1 | 5 tests |
| Cardiofaciocutaneous syndrome 2 | 4 tests |
| Cardiofaciocutaneous syndrome 3 | 2 tests |
| Cardiofaciocutaneous syndrome 4 | 2 tests |
| Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | 4 tests |
| Cardiomyopathy, familial restrictive, 1 | 1 test |
| Cardiomyopathy, familial restrictive, 3 | 2 tests |
| Cardiomyopathy-hypotonia-lactic acidosis syndrome | 2 tests |
| Carney complex - trismus - pseudocamptodactyly syndrome | 2 tests |
| Carney complex, type 1 | 2 tests |
| Carney-Stratakis syndrome | 2 tests |
| Carnitine acylcarnitine translocase deficiency | 2 tests |
| Carnitine palmitoyl transferase 1A deficiency | 2 tests |
| Carnitine palmitoyl transferase II deficiency, myopathic form | 2 tests |
| Carnitine palmitoyl transferase II deficiency, neonatal form | 4 tests |
| Carnitine palmitoyl transferase II deficiency, severe infantile form | 2 tests |
| Carotid intimal medial thickness 1 | 2 tests |
| Carpal tunnel syndrome | 1 test |
| Cataract 1 multiple types | 1 test |
| Cataract 10 multiple types | 1 test |
| Cataract 11 multiple types | 1 test |
| Cataract 12 multiple types | 1 test |
| Cataract 13 with adult I phenotype | 1 test |
| Cataract 14 multiple types | 1 test |
| Cataract 15 multiple types | 1 test |
| Cataract 16 multiple types | 1 test |
| Cataract 17 multiple types | 1 test |
| Cataract 18 | 1 test |
| Cataract 19 multiple types | 1 test |
| Cataract 2, multiple types | 1 test |
| Cataract 20 multiple types | 1 test |
| Cataract 21 multiple types | 1 test |
| Cataract 22 multiple types | 1 test |
| Cataract 23 | 1 test |
| Cataract 3 multiple types | 1 test |
| Cataract 30 | 1 test |
| Cataract 31 multiple types | 1 test |
| Cataract 33 | 1 test |
| Cataract 34 multiple types | 1 test |
| Cataract 36 | 1 test |
| Cataract 38 | 1 test |
| Cataract 39 multiple types | 1 test |
| Cataract 4 multiple types | 1 test |
| Cataract 40 | 1 test |
| Cataract 41 | 2 tests |
| Cataract 42 | 1 test |
| Cataract 43 | 1 test |
| Cataract 44 | 1 test |
| Cataract 45 | 1 test |
| Cataract 46 juvenile-onset | 1 test |
| Cataract 5 multiple types | 1 test |
| Cataract 6 multiple types | 1 test |
| Cataract 9 multiple types | 1 test |
| Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | 1 test |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 1 test |
| Catecholaminergic polymorphic ventricular tachycardia 2 | 1 test |
| Catecholaminergic polymorphic ventricular tachycardia 3 | 1 test |
| Catecholaminergic polymorphic ventricular tachycardia 4 | 1 test |
| Catecholaminergic polymorphic ventricular tachycardia 5 | 1 test |
| Catel-Manzke syndrome | 2 tests |
| Caudal duplication | 2 tests |
| Cayman type cerebellar ataxia | 1 test |
| Celiac disease, susceptibility to, 3 | 1 test |
| Celiac disease, susceptibility to, 4 | 1 test |
| Cenani-Lenz syndactyly syndrome | 2 tests |
| Central core myopathy | 8 tests |
| Central precocious puberty 1 | 1 test |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 | 4 tests |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 | 2 tests |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 | 4 tests |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 | 2 tests |
| Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | 4 tests |
| Cerebellar ataxia-hypogonadism syndrome | 1 test |
| Cerebellar atrophy, visual impairment, and psychomotor retardation; | 2 tests |
| Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 2 tests |
| Cerebellar-facial-dental syndrome | 2 tests |
| Cerebral amyloid angiopathy, APP-related | 2 tests |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 2 tests |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | 1 test |
| Cerebral arteriovenous malformation | 2 tests |
| Cerebral cavernous malformation | 3 tests |
| Cerebral cavernous malformation 2 | 1 test |
| Cerebral cavernous malformation 3 | 1 test |
| Cerebral folate transport deficiency | 2 tests |
| Cerebral palsy, spastic quadriplegic, 2 | 2 tests |
| Cerebral palsy, spastic quadriplegic, 3 | 2 tests |
| Cerebro-costo-mandibular syndrome | 2 tests |
| Cerebrooculofacioskeletal syndrome 1 | 2 tests |
| Cerebrooculofacioskeletal syndrome 2 | 2 tests |
| Cerebrooculofacioskeletal syndrome 3 | 2 tests |
| Cerebrooculofacioskeletal syndrome 4 | 2 tests |
| Cerebroretinal microangiopathy with calcifications and cysts 1 | 2 tests |
| Cerebroretinal microangiopathy with calcifications and cysts 2 | 2 tests |
| Cernunnos-XLF deficiency | 2 tests |
| Ceroid lipofuscinosis, neuronal, 4 (Kufs type) | 2 tests |
| Ceroid lipofuscinosis, neuronal, 6A | 1 test |
| Cervical cancer | 1 test |
| Channelopathy-associated congenital insensitivity to pain, autosomal recessive | 2 tests |
| Char syndrome | 2 tests |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 2 tests |
| Charcot-Marie-Tooth disease X-linked dominant 6 | 1 test |
| Charcot-Marie-Tooth disease X-linked recessive 5 | 1 test |
| Charcot-Marie-Tooth disease axonal type 2C | 1 test |
| Charcot-Marie-Tooth disease axonal type 2CC | 1 test |
| Charcot-Marie-Tooth disease axonal type 2F | 2 tests |
| Charcot-Marie-Tooth disease axonal type 2K | 3 tests |
| Charcot-Marie-Tooth disease axonal type 2L | 1 test |
| Charcot-Marie-Tooth disease axonal type 2N | 1 test |
| Charcot-Marie-Tooth disease axonal type 2O | 1 test |
| Charcot-Marie-Tooth disease axonal type 2P | 1 test |
| Charcot-Marie-Tooth disease axonal type 2Q | 1 test |
| Charcot-Marie-Tooth disease axonal type 2S | 2 tests |
| Charcot-Marie-Tooth disease axonal type 2T | 1 test |
| Charcot-Marie-Tooth disease axonal type 2U | 1 test |
| Charcot-Marie-Tooth disease axonal type 2V | 1 test |
| Charcot-Marie-Tooth disease axonal type 2X | 2 tests |
| Charcot-Marie-Tooth disease axonal type 2Z | 1 test |
| Charcot-Marie-Tooth disease dominant intermediate B | 2 tests |
| Charcot-Marie-Tooth disease dominant intermediate C | 1 test |
| Charcot-Marie-Tooth disease dominant intermediate D | 2 tests |
| Charcot-Marie-Tooth disease dominant intermediate E | 1 test |
| Charcot-Marie-Tooth disease dominant intermediate F | 1 test |
| Charcot-Marie-Tooth disease recessive intermediate A | 2 tests |
| Charcot-Marie-Tooth disease recessive intermediate B | 1 test |
| Charcot-Marie-Tooth disease recessive intermediate C | 1 test |
| Charcot-Marie-Tooth disease recessive intermediate D | 1 test |
| Charcot-Marie-Tooth disease type 1B | 2 tests |
| Charcot-Marie-Tooth disease type 1C | 1 test |
| Charcot-Marie-Tooth disease type 1D | 2 tests |
| Charcot-Marie-Tooth disease type 1E | 2 tests |
| Charcot-Marie-Tooth disease type 1F | 1 test |
| Charcot-Marie-Tooth disease type 2A1 | 1 test |
| Charcot-Marie-Tooth disease type 2A2 | 2 tests |
| Charcot-Marie-Tooth disease type 2B | 2 tests |
| Charcot-Marie-Tooth disease type 2B1 | 2 tests |
| Charcot-Marie-Tooth disease type 2B2 | 1 test |
| Charcot-Marie-Tooth disease type 2E | 1 test |
| Charcot-Marie-Tooth disease type 2I | 2 tests |
| Charcot-Marie-Tooth disease type 2J | 2 tests |
| Charcot-Marie-Tooth disease type 2R | 1 test |
| Charcot-Marie-Tooth disease type 2Y | 1 test |
| Charcot-Marie-Tooth disease type 4A | 2 tests |
| Charcot-Marie-Tooth disease type 4B1 | 2 tests |
| Charcot-Marie-Tooth disease type 4B2 | 2 tests |
| Charcot-Marie-Tooth disease type 4B3 | 1 test |
| Charcot-Marie-Tooth disease type 4C | 2 tests |
| Charcot-Marie-Tooth disease type 4D | 1 test |
| Charcot-Marie-Tooth disease type 4E | 8 tests |
| Charcot-Marie-Tooth disease type 4F | 2 tests |
| Charcot-Marie-Tooth disease type 4G | 1 test |
| Charcot-Marie-Tooth disease type 4H | 1 test |
| Charcot-Marie-Tooth disease type 4J | 1 test |
| Charcot-Marie-Tooth disease type 4K | 1 test |
| Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; | 2 tests |
| Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 2 tests |
| Charcot-Marie-Tooth disease, type IA | 2 tests |
| Charlevoix-Saguenay spastic ataxia | 1 test |
| Chilblain lupus 1 | 2 tests |
| Chilblain lupus 2 | 2 tests |
| Child syndrome | 3 tests |
| Childhood apraxia of speech | 1 test |
| Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | 2 tests |
| Childhood hypophosphatasia | 2 tests |
| Childhood onset GLUT1 deficiency syndrome 2 | 4 tests |
| Chitayat syndrome | 2 tests |
| Chitotriosidase deficiency | 1 test |
| Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome | 2 tests |
| Cholestanol storage disease | 2 tests |
| Cholestasis, intrahepatic, of pregnancy, 1 | 1 test |
| Cholestasis, intrahepatic, of pregnancy, 3 | 2 tests |
| Cholestasis, progressive familial intrahepatic, 4 | 2 tests |
| Cholestasis, progressive familial intrahepatic, 5 | 2 tests |
| Chondrocalcinosis 2 | 2 tests |
| Chondrodysplasia Blomstrand type | 2 tests |
| Chondrodysplasia punctata 2 X-linked dominant | 2 tests |
| Chondrodysplasia with joint dislocations, gPAPP type | 2 tests |
| Chondrosarcoma | 2 tests |
| Chorea-acanthocytosis | 1 test |
| Choroid plexus papilloma | 6 tests |
| Choroidal dystrophy, central areolar 2 | 3 tests |
| Choroideremia | 2 tests |
| Christianson syndrome | 2 tests |
| Chromosome 10q23 deletion syndrome | 2 tests |
| Chromosome 13q14 deletion syndrome | 2 tests |
| Chromosome 14q11-q22 deletion syndrome | 1 test |
| Chromosome 15q11.2 deletion syndrome | 2 tests |
| Chromosome 15q13.3 microdeletion syndrome | 2 tests |
| Chromosome 15q25 deletion syndrome | 2 tests |
| Chromosome 15q26-qter deletion syndrome | 2 tests |
| Chromosome 16p11.2 duplication syndrome | 3 tests |
| Chromosome 16p12.2-p11.2 deletion syndrome | 2 tests |
| Chromosome 16p13.3 duplication syndrome | 2 tests |
| Chromosome 16q22 deletion syndrome | 2 tests |
| Chromosome 17P13.3, telomeric, duplication syndrome | 3 tests |
| Chromosome 17p13.1 deletion syndrome | 2 tests |
| Chromosome 17p13.3 duplication syndrome | 2 tests |
| Chromosome 17q11.2 deletion syndrome, 1.4Mb | 2 tests |
| Chromosome 17q12 deletion syndrome | 2 tests |
| Chromosome 17q12 duplication syndrome | 2 tests |
| Chromosome 17q21.31 duplication syndrome | 2 tests |
| Chromosome 17q23.1-q23.2 deletion syndrome | 2 tests |
| Chromosome 19p13.13 deletion syndrome | 3 tests |
| Chromosome 19q13.11 deletion syndrome, distal | 2 tests |
| Chromosome 1p32-p31 deletion syndrome | 2 tests |
| Chromosome 1p36 deletion syndrome | 2 tests |
| Chromosome 1q21.1 deletion syndrome | 2 tests |
| Chromosome 1q21.1 duplication syndrome | 2 tests |
| Chromosome 1q41-q42 deletion syndrome | 2 tests |
| Chromosome 22q11.2 deletion syndrome, distal | 2 tests |
| Chromosome 22q11.2 microduplication syndrome | 2 tests |
| Chromosome 22q13 duplication syndrome | 2 tests |
| Chromosome 2p12-p11.2 deletion syndrome | 2 tests |
| Chromosome 2p16.1-p15 deletion syndrome | 2 tests |
| Chromosome 2p16.3 deletion syndrome | 3 tests |
| Chromosome 2q31.1 duplication syndrome | 2 tests |
| Chromosome 2q31.2 deletion syndrome | 2 tests |
| Chromosome 2q32-q33 deletion syndrome | 2 tests |
| Chromosome 2q37 deletion syndrome | 2 tests |
| Chromosome 3q13.31 deletion syndrome | 2 tests |
| Chromosome 3q29 microdeletion syndrome | 2 tests |
| Chromosome 3q29 microduplication syndrome | 2 tests |
| Chromosome 4Q32.1-q32.2 triplication syndrome | 2 tests |
| Chromosome 4q21 deletion syndrome | 2 tests |
| Chromosome 5p13 duplication syndrome | 2 tests |
| Chromosome 5q12 deletion syndrome | 2 tests |
| Chromosome 6pter-p24 deletion syndrome | 2 tests |
| Chromosome 6q11-q14 deletion syndrome | 2 tests |
| Chromosome 6q24-q25 deletion syndrome | 2 tests |
| Chromosome 8q21.11 deletion syndrome | 2 tests |
| Chromosome 9p deletion syndrome | 2 tests |
| Chromosome Xp11.22 duplication syndrome | 3 tests |
| Chromosome Xp11.23-p11.22 duplication syndrome | 2 tests |
| Chromosome Xp21 deletion syndrome | 2 tests |
| Chromosome Xq28 duplication syndrome | 2 tests |
| Chronic infantile neurological, cutaneous and articular syndrome | 2 tests |
| Chronic obstructive pulmonary disease | 6 tests |
| Chudley-McCullough syndrome | 2 tests |
| Chuvash polycythemia | 2 tests |
| Chylomicron retention disease | 1 test |
| Chédiak-Higashi syndrome | 2 tests |
| Ciliary dyskinesia, primary, 36, X-linked | 1 test |
| Citrullinemia type I | 2 tests |
| Citrullinemia type II | 2 tests |
| Classic Hodgkin lymphoma | 1 test |
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 8 tests |
| Classic dopamine transporter deficiency syndrome | 1 test |
| Classic homocystinuria | 4 tests |
| Cleft lip/palate-ectodermal dysplasia syndrome | 4 tests |
| Cleft palate with or without ankyloglossia, X-linked | 2 tests |
| Cleidocranial dysostosis | 4 tests |
| Clubfoot | 2 tests |
| Cobalamin C disease | 2 tests |
| Cobblestone lissencephaly without muscular or ocular involvement | 2 tests |
| Cockayne syndrome type 1 | 2 tests |
| Cockayne syndrome type 2 | 2 tests |
| Cocoon syndrome | 2 tests |
| Coenzyme Q10 deficiency, primary, 1 | 2 tests |
| Coenzyme Q10 deficiency, primary, 3 | 2 tests |
| Coffin-Lowry syndrome | 4 tests |
| Coffin-Siris syndrome 1 | 4 tests |
| Coffin-Siris syndrome 5 | 2 tests |
| Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome | 2 tests |
| Cognitive impairment with or without cerebellar ataxia | 2 tests |
| Cohen syndrome | 4 tests |
| Colchicine resistance | 1 test |
| Cold-induced sweating syndrome 1 | 2 tests |
| Cold-induced sweating syndrome 2 | 2 tests |
| Cole-Carpenter syndrome 1 | 2 tests |
| Cole-Carpenter syndrome 2 | 2 tests |
| Coloboma of optic nerve | 4 tests |
| Coloboma, ocular, autosomal recessive | 1 test |
| Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness | 4 tests |
| Colobomatous microphthalmia-rhizomelic dysplasia syndrome | 2 tests |
| Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome | 1 test |
| Colorectal cancer | 29 tests |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 1 test |
| Colorectal cancer, hereditary nonpolyposis, type 6 | 1 test |
| Colorectal cancer, hereditary nonpolyposis, type 7 | 4 tests |
| Colorectal cancer, susceptibility to, 1 | 1 test |
| Colorectal cancer, susceptibility to, 10 | 2 tests |
| Colorectal cancer, susceptibility to, 12 | 1 test |
| Colorectal cancer, susceptibility to, 3 | 1 test |
| Combined PSAP deficiency | 2 tests |
| Combined deficiency of sialidase AND beta galactosidase | 2 tests |
| Combined immunodeficiency due to CD3gamma deficiency | 2 tests |
| Combined immunodeficiency due to DOCK8 deficiency | 2 tests |
| Combined immunodeficiency due to LRBA deficiency | 2 tests |
| Combined immunodeficiency due to MALT1 deficiency | 2 tests |
| Combined immunodeficiency due to ORAI1 deficiency | 2 tests |
| Combined immunodeficiency due to OX40 deficiency | 2 tests |
| Combined immunodeficiency due to STIM1 deficiency | 2 tests |
| Combined immunodeficiency due to STK4 deficiency | 2 tests |
| Combined immunodeficiency due to ZAP70 deficiency | 2 tests |
| Combined immunodeficiency due to moesin deficiency | 2 tests |
| Combined immunodeficiency due to partial RAG1 deficiency | 1 test |
| Combined immunodeficiency with skin granulomas | 4 tests |
| Combined immunodeficiency, X-linked | 2 tests |
| Combined malonic and methylmalonic acidemia | 2 tests |
| Combined oxidative phosphorylation defect type 11 | 2 tests |
| Combined oxidative phosphorylation defect type 13 | 2 tests |
| Combined oxidative phosphorylation defect type 14 | 2 tests |
| Combined oxidative phosphorylation defect type 15 | 2 tests |
| Combined oxidative phosphorylation defect type 17 | 2 tests |
| Combined oxidative phosphorylation defect type 2 | 2 tests |
| Combined oxidative phosphorylation defect type 20 | 2 tests |
| Combined oxidative phosphorylation defect type 21 | 2 tests |
| Combined oxidative phosphorylation defect type 23 | 2 tests |
| Combined oxidative phosphorylation defect type 24 | 2 tests |
| Combined oxidative phosphorylation defect type 25 | 2 tests |
| Combined oxidative phosphorylation defect type 26 | 2 tests |
| Combined oxidative phosphorylation defect type 27 | 2 tests |
| Combined oxidative phosphorylation defect type 30 | 2 tests |
| Combined oxidative phosphorylation defect type 4 | 2 tests |
| Combined oxidative phosphorylation defect type 7 | 2 tests |
| Combined oxidative phosphorylation defect type 8 | 2 tests |
| Combined oxidative phosphorylation defect type 9 | 2 tests |
| Combined oxidative phosphorylation deficiency 19 | 2 tests |
| Combined oxidative phosphorylation deficiency 22 | 2 tests |
| Combined oxidative phosphorylation deficiency 28 | 2 tests |
| Combined oxidative phosphorylation deficiency 29 | 2 tests |
| Complement component 2 deficiency | 2 tests |
| Complement component 3 deficiency | 2 tests |
| Complement component 4a deficiency | 2 tests |
| Complement component 4b deficiency | 2 tests |
| Complement component 5 deficiency | 2 tests |
| Complement component 6 deficiency | 4 tests |
| Complement component 7 deficiency | 2 tests |
| Complement component 9 deficiency | 2 tests |
| Complement component C1s deficiency | 2 tests |
| Complement factor b deficiency | 2 tests |
| Complex cortical dysplasia with other brain malformations 1 | 2 tests |
| Complex cortical dysplasia with other brain malformations 2 | 2 tests |
| Complex cortical dysplasia with other brain malformations 3 | 2 tests |
| Complex cortical dysplasia with other brain malformations 5 | 2 tests |
| Complex cortical dysplasia with other brain malformations 6 | 4 tests |
| Complex cortical dysplasia with other brain malformations 7 | 2 tests |
| Complex lethal osteochondrodysplasia | 2 tests |
| Compton-North congenital myopathy | 2 tests |
| Conduction disorder of the heart | 1 test |
| Cone dystrophy 3 | 2 tests |
| Cone dystrophy 4 | 1 test |
| Cone dystrophy with supernormal rod response | 1 test |
| Cone monochromatism | 2 tests |
| Cone-rod dystrophy 10 | 1 test |
| Cone-rod dystrophy 11 | 1 test |
| Cone-rod dystrophy 12 | 1 test |
| Cone-rod dystrophy 13 | 2 tests |
| Cone-rod dystrophy 15 | 2 tests |
| Cone-rod dystrophy 16 | 2 tests |
| Cone-rod dystrophy 18 | 1 test |
| Cone-rod dystrophy 19 | 1 test |
| Cone-rod dystrophy 2 | 2 tests |
| Cone-rod dystrophy 20 | 1 test |
| Cone-rod dystrophy 21 | 1 test |
| Cone-rod dystrophy 3 | 2 tests |
| Cone-rod dystrophy 5 | 1 test |
| Cone-rod dystrophy 6 | 2 tests |
| Cone-rod dystrophy 7 | 1 test |
| Cone-rod dystrophy 9 | 1 test |
| Cone-rod dystrophy and hearing loss 1 | 1 test |
| Cone-rod synaptic disorder, congenital nonprogressive | 1 test |
| Congenital absence of salivary gland | 2 tests |
| Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | 2 tests |
| Congenital adrenal hypoplasia, X-linked | 2 tests |
| Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | 2 tests |
| Congenital afibrinogenemia | 10 tests |
| Congenital amegakaryocytic thrombocytopenia | 2 tests |
| Congenital anomalies of kidney and urinary tract 1 | 1 test |
| Congenital anomalies of kidney and urinary tract 2 | 2 tests |
| Congenital bilateral aplasia of vas deferens from CFTR mutation | 2 tests |
| Congenital bile acid synthesis defect 1 | 2 tests |
| Congenital bile acid synthesis defect 2 | 2 tests |
| Congenital bile acid synthesis defect 3 | 2 tests |
| Congenital bile acid synthesis defect 4 | 2 tests |
| Congenital bile acid synthesis defect 5 | 2 tests |
| Congenital bile acid synthesis defect 6 | 2 tests |
| Congenital brain dysgenesis due to glutamine synthetase deficiency | 2 tests |
| Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | 2 tests |
| Congenital cataracts-facial dysmorphism-neuropathy syndrome | 2 tests |
| Congenital central hypoventilation | 24 tests |
| Congenital contractural arachnodactyly | 2 tests |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | 2 tests |
| Congenital defect of folate absorption | 1 test |
| Congenital diarrhea 5 with tufting enteropathy | 2 tests |
| Congenital diarrhea 6 | 2 tests |
| Congenital diarrhea 7 with exudative enteropathy | 2 tests |
| Congenital disorder of deglycosylation | 2 tests |
| Congenital disorder of glycosylation type 1E | 2 tests |
| Congenital disorder of glycosylation type Ir | 2 tests |
| Congenital disorder of glycosylation, type IAA | 2 tests |
| Congenital dyserythropoietic anemia type 4 | 2 tests |
| Congenital dyserythropoietic anemia type type 1B | 2 tests |
| Congenital dyserythropoietic anemia, type I | 2 tests |
| Congenital dyserythropoietic anemia, type II | 3 tests |
| Congenital fibrosis of extraocular muscles type 1 | 2 tests |
| Congenital generalized lipodystrophy type 1 | 2 tests |
| Congenital generalized lipodystrophy type 2 | 2 tests |
| Congenital generalized lipodystrophy type 3 | 2 tests |
| Congenital generalized lipodystrophy type 4 | 2 tests |
| Congenital glucose-galactose malabsorption | 2 tests |
| Congenital heart defects and ectodermal dysplasia | 2 tests |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 2 tests |
| Congenital heart defects, multiple types, 2 | 2 tests |
| Congenital heart defects, multiple types, 4 | 2 tests |
| Congenital heart defects, multiple types, 6 | 2 tests |
| Congenital hereditary endothelial dystrophy of cornea | 1 test |
| Congenital hyperammonemia, type I | 3 tests |
| Congenital hypotrichosis with juvenile macular dystrophy | 1 test |
| Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome | 2 tests |
| Congenital insensitivity to pain-hypohidrosis syndrome | 1 test |
| Congenital isolated adrenocorticotropic hormone deficiency | 2 tests |
| Congenital lactase deficiency | 2 tests |
| Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 2 tests |
| Congenital lipoid adrenal hyperplasia due to STAR deficency | 2 tests |
| Congenital malabsorptive diarrhea 4 | 2 tests |
| Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | 2 tests |
| Congenital microvillous atrophy | 6 tests |
| Congenital multicore myopathy with external ophthalmoplegia | 4 tests |
| Congenital muscular dystrophy due to integrin alpha-7 deficiency | 2 tests |
| Congenital muscular dystrophy with intellectual disability and severe epilepsy | 2 tests |
| Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome | 2 tests |
| Congenital muscular hypertrophy-cerebral syndrome | 2 tests |
| Congenital myasthenic syndrome 10 | 2 tests |
| Congenital myasthenic syndrome 11 | 2 tests |
| Congenital myasthenic syndrome 12 | 2 tests |
| Congenital myasthenic syndrome 13 | 2 tests |
| Congenital myasthenic syndrome 14 | 2 tests |
| Congenital myasthenic syndrome 15 | 2 tests |
| Congenital myasthenic syndrome 16 | 4 tests |
| Congenital myasthenic syndrome 17 | 2 tests |
| Congenital myasthenic syndrome 18 | 2 tests |
| Congenital myasthenic syndrome 19 | 2 tests |
| Congenital myasthenic syndrome 20 | 2 tests |
| Congenital myasthenic syndrome 21 | 2 tests |
| Congenital myasthenic syndrome 2A | 2 tests |
| Congenital myasthenic syndrome 2C | 2 tests |
| Congenital myasthenic syndrome 3A | 2 tests |
| Congenital myasthenic syndrome 3B | 2 tests |
| Congenital myasthenic syndrome 3C | 2 tests |
| Congenital myasthenic syndrome 4A | 2 tests |
| Congenital myasthenic syndrome 4B | 2 tests |
| Congenital myasthenic syndrome 4C | 2 tests |
| Congenital myasthenic syndrome 5 | 2 tests |
| Congenital myasthenic syndrome 7 | 2 tests |
| Congenital myasthenic syndrome 8 | 2 tests |
| Congenital myasthenic syndrome 9 | 1 test |
| Congenital myopathy 23 | 4 tests |
| Congenital myopathy 4B, autosomal recessive | 4 tests |
| Congenital myopathy with fiber type disproportion | 6 tests |
| Congenital myopathy with internal nuclei and atypical cores | 2 tests |
| Congenital myotonia, autosomal dominant form | 8 tests |
| Congenital myotonia, autosomal recessive form | 6 tests |
| Congenital neutropenia-myelofibrosis-nephromegaly syndrome | 2 tests |
| Congenital nongoitrous hypothyroidism 6 | 1 test |
| Congenital plasminogen activator inhibitor type 1 deficiency | 2 tests |
| Congenital primary aphakia | 1 test |
| Congenital prothrombin deficiency | 2 tests |
| Congenital reticular ichthyosiform erythroderma | 1 test |
| Congenital secretory diarrhea, chloride type | 4 tests |
| Congenital secretory sodium diarrhea 3 | 2 tests |
| Congenital secretory sodium diarrhea 8 | 2 tests |
| Congenital sensory neuropathy with selective loss of small myelinated fibers | 1 test |
| Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | 2 tests |
| Congenital stationary night blindness 1A | 1 test |
| Congenital stationary night blindness 1B | 1 test |
| Congenital stationary night blindness 1C | 1 test |
| Congenital stationary night blindness 1D | 1 test |
| Congenital stationary night blindness 1E | 1 test |
| Congenital stationary night blindness 1F | 1 test |
| Congenital stationary night blindness 1G | 1 test |
| Congenital stationary night blindness 1H | 1 test |
| Congenital stationary night blindness 2A | 1 test |
| Congenital stationary night blindness autosomal dominant 1 | 2 tests |
| Congenital stationary night blindness autosomal dominant 2 | 1 test |
| Congenital stationary night blindness autosomal dominant 3 | 1 test |
| Congenital vertical talus | 2 tests |
| Conotruncal heart malformations | 12 tests |
| Constitutional megaloblastic anemia with severe neurologic disease | 2 tests |
| Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | 2 tests |
| Cornea plana 2 | 1 test |
| Corneal dystrophy, Fuchs endothelial, 1 | 1 test |
| Corneal dystrophy, Fuchs endothelial, 3 | 1 test |
| Corneal dystrophy, Fuchs endothelial, 4 | 1 test |
| Corneal dystrophy, Fuchs endothelial, 6 | 1 test |
| Corneal dystrophy, Fuchs endothelial, 8 | 1 test |
| Corneal dystrophy, Meesmann, 1 | 2 tests |
| Corneal dystrophy, lattice type 3A | 1 test |
| Corneal dystrophy-perceptive deafness syndrome | 1 test |
| Cornelia de Lange syndrome 1 | 4 tests |
| Cornelia de Lange syndrome 3 | 2 tests |
| Cornelia de Lange syndrome 4 | 2 tests |
| Cornelia de Lange syndrome 5 | 2 tests |
| Coronary artery disease, autosomal dominant 2 | 1 test |
| Coronary artery disease, autosomal dominant, 1 | 1 test |
| Coronary heart disease, susceptibility to, 1 | 2 tests |
| Coronary heart disease, susceptibility to, 5 | 1 test |
| Coronary heart disease, susceptibility to, 6 | 1 test |
| Coronary heart disease, susceptibility to, 7 | 1 test |
| Corpus callosum agenesis-abnormal genitalia syndrome | 6 tests |
| Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | 2 tests |
| Cortical dysplasia-focal epilepsy syndrome | 8 tests |
| Corticosteroid-binding globulin deficiency | 1 test |
| Corticosterone 18-monooxygenase deficiency | 3 tests |
| Corticosterone methyloxidase type 2 deficiency | 1 test |
| Cortisone reductase deficiency 1 | 1 test |
| Cortisone reductase deficiency 2 | 1 test |
| Costello syndrome | 8 tests |
| Cowden syndrome 1 | 6 tests |
| Cowden syndrome 4 | 1 test |
| Cowden syndrome 5 | 1 test |
| Cowden syndrome 6 | 1 test |
| Cowden syndrome 7 | 1 test |
| Coxopodopatellar syndrome | 2 tests |
| Craniodiaphyseal dysplasia, autosomal dominant | 2 tests |
| Cranioectodermal dysplasia 1 | 2 tests |
| Cranioectodermal dysplasia 2 | 2 tests |
| Cranioectodermal dysplasia 3 | 2 tests |
| Cranioectodermal dysplasia 4 | 2 tests |
| Craniofacial anomalies and anterior segment dysgenesis syndrome | 2 tests |
| Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 | 2 tests |
| Craniofacial dysplasia - osteopenia syndrome | 2 tests |
| Craniofacial-deafness-hand syndrome | 4 tests |
| Craniofrontonasal syndrome | 2 tests |
| Craniolenticulosutural dysplasia | 2 tests |
| Craniometaphyseal dysplasia, autosomal dominant | 1 test |
| Craniometaphyseal dysplasia, autosomal recessive | 1 test |
| Craniosynostosis 2 | 6 tests |
| Craniosynostosis 4 | 2 tests |
| Craniosynostosis 5, susceptibility to | 4 tests |
| Craniosynostosis 6 | 4 tests |
| Craniosynostosis and dental anomalies | 2 tests |
| Creatine transporter deficiency | 4 tests |
| Crigler-Najjar syndrome type 1 | 2 tests |
| Crigler-Najjar syndrome, type II | 2 tests |
| Crouzon syndrome | 2 tests |
| Crouzon syndrome-acanthosis nigricans syndrome | 4 tests |
| Cryohydrocytosis | 1 test |
| Cryptorchidism | 1 test |
| Cryptosporidiosis-chronic cholangitis-liver disease syndrome | 2 tests |
| Currarino triad | 2 tests |
| Curry-Hall syndrome | 8 tests |
| Curry-Jones syndrome | 2 tests |
| Cushing syndrome | 2 tests |
| Cutaneous porphyria | 4 tests |
| Cutis laxa with osteodystrophy | 3 tests |
| Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | 2 tests |
| Cutis laxa, X-linked | 4 tests |
| Cutis laxa, autosomal dominant 1 | 2 tests |
| Cutis laxa, autosomal dominant 2 | 2 tests |
| Cutis laxa, autosomal dominant 3 | 2 tests |
| Cutis laxa, autosomal recessive, type 1A | 2 tests |
| Cutis laxa, autosomal recessive, type 1B | 2 tests |
| Cyanosis, transient neonatal | 1 test |
| Cyclical neutropenia | 2 tests |
| Cystathioninuria | 2 tests |
| Cystic fibrosis | 14 tests |
| Cystic leukoencephalopathy without megalencephaly | 2 tests |
| Cystinuria | 8 tests |
| D-2-hydroxyglutaric aciduria 1 | 4 tests |
| D-2-hydroxyglutaric aciduria 2 | 2 tests |
| D-Glyceric aciduria | 2 tests |
| DDX41-related hematologic malignancy predisposition syndrome | 1 test |
| DE SANCTIS-CACCHIONE SYNDROME | 2 tests |
| DICER1-related tumor predisposition | 1 test |
| DK1-congenital disorder of glycosylation | 2 tests |
| DNA ligase IV deficiency | 2 tests |
| DOCK2 deficiency | 2 tests |
| DOORS syndrome | 2 tests |
| DPAGT1-congenital disorder of glycosylation | 2 tests |
| DPM3-congenital disorder of glycosylation | 2 tests |
| DYRK1A-related intellectual disability syndrome | 2 tests |
| Dalmatian hypouricemia | 1 test |
| Dandy-Walker syndrome | 2 tests |
| Danon disease | 2 tests |
| DeSanto-Shinawi syndrome due to WAC point mutation | 2 tests |
| Deafness dystonia syndrome | 2 tests |
| Deafness with labyrinthine aplasia, microtia, and microdontia | 1 test |
| Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | 1 test |
| Deafness-encephaloneuropathy-obesity-valvulopathy syndrome | 2 tests |
| Deafness-infertility syndrome | 1 test |
| Deafness-lymphedema-leukemia syndrome | 6 tests |
| Deficiency of 2-methylbutyryl-CoA dehydrogenase | 2 tests |
| Deficiency of 3-hydroxyacyl-CoA dehydrogenase | 2 tests |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 4 tests |
| Deficiency of acetyl-CoA acetyltransferase | 2 tests |
| Deficiency of alpha-mannosidase | 2 tests |
| Deficiency of aromatic-L-amino-acid decarboxylase | 2 tests |
| Deficiency of beta-ureidopropionase | 2 tests |
| Deficiency of bisphosphoglycerate mutase | 1 test |
| Deficiency of butyryl-CoA dehydrogenase | 2 tests |
| Deficiency of cytochrome-b5 reductase | 4 tests |
| Deficiency of ferroxidase | 4 tests |
| Deficiency of galactokinase | 2 tests |
| Deficiency of guanidinoacetate methyltransferase | 2 tests |
| Deficiency of hyaluronoglucosaminidase | 2 tests |
| Deficiency of hydroxymethylglutaryl-CoA lyase | 2 tests |
| Deficiency of iodide peroxidase | 2 tests |
| Deficiency of isobutyryl-CoA dehydrogenase | 2 tests |
| Deficiency of malonyl-CoA decarboxylase | 4 tests |
| Deficiency of phosphoserine phosphatase | 2 tests |
| Deficiency of ribose-5-phosphate isomerase | 2 tests |
| Deficiency of steroid 11-beta-monooxygenase | 2 tests |
| Deficiency of steroid 17-alpha-monooxygenase | 10 tests |
| Deficiency of transaldolase | 2 tests |
| Dehydrated hereditary stomatocytosis 2 | 2 tests |
| Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | 2 tests |
| Dejerine-Sottas disease | 16 tests |
| Deletion of long arm of chromosome 18 | 2 tests |
| Deletion of short arm of chromosome 18 | 2 tests |
| Dengue virus, susceptibility to | 2 tests |
| Dent disease type 1 | 2 tests |
| Dent disease type 2 | 2 tests |
| Dentatorubral-pallidoluysian atrophy | 2 tests |
| Denticles | 1 test |
| Dentin dysplasia type I | 1 test |
| Dentinogenesis imperfecta type 2 | 1 test |
| Dentinogenesis imperfecta type 3 | 1 test |
| Dermatitis, atopic, 2 | 1 test |
| Dermatofibrosarcoma protuberans | 2 tests |
| Dermatofibrosis lenticularis disseminata | 4 tests |
| Dermatopathia pigmentosa reticularis | 2 tests |
| Desbuquois dysplasia 1 | 2 tests |
| Desbuquois dysplasia 2 | 2 tests |
| Desmin-related myofibrillar myopathy | 2 tests |
| Desmoid disease, hereditary | 2 tests |
| Desmosterolosis | 1 test |
| Deuteranomaly | 1 test |
| Developmental and epileptic encephalopathy 94 | 2 tests |
| Developmental and epileptic encephalopathy, 1 | 4 tests |
| Developmental and epileptic encephalopathy, 11 | 2 tests |
| Developmental and epileptic encephalopathy, 12 | 2 tests |
| Developmental and epileptic encephalopathy, 13 | 2 tests |
| Developmental and epileptic encephalopathy, 14 | 2 tests |
| Developmental and epileptic encephalopathy, 15 | 2 tests |
| Developmental and epileptic encephalopathy, 16 | 2 tests |
| Developmental and epileptic encephalopathy, 17 | 2 tests |
| Developmental and epileptic encephalopathy, 18 | 2 tests |
| Developmental and epileptic encephalopathy, 19 | 2 tests |
| Developmental and epileptic encephalopathy, 2 | 4 tests |
| Developmental and epileptic encephalopathy, 21 | 2 tests |
| Developmental and epileptic encephalopathy, 23 | 2 tests |
| Developmental and epileptic encephalopathy, 24 | 2 tests |
| Developmental and epileptic encephalopathy, 25 | 2 tests |
| Developmental and epileptic encephalopathy, 26 | 2 tests |
| Developmental and epileptic encephalopathy, 27 | 4 tests |
| Developmental and epileptic encephalopathy, 28 | 4 tests |
| Developmental and epileptic encephalopathy, 29 | 2 tests |
| Developmental and epileptic encephalopathy, 30 | 2 tests |
| Developmental and epileptic encephalopathy, 31A | 2 tests |
| Developmental and epileptic encephalopathy, 32 | 2 tests |
| Developmental and epileptic encephalopathy, 33 | 2 tests |
| Developmental and epileptic encephalopathy, 34 | 2 tests |
| Developmental and epileptic encephalopathy, 35 | 2 tests |
| Developmental and epileptic encephalopathy, 36 | 4 tests |
| Developmental and epileptic encephalopathy, 37 | 2 tests |
| Developmental and epileptic encephalopathy, 38 | 2 tests |
| Developmental and epileptic encephalopathy, 39 | 2 tests |
| Developmental and epileptic encephalopathy, 4 | 4 tests |
| Developmental and epileptic encephalopathy, 40 | 2 tests |
| Developmental and epileptic encephalopathy, 41 | 2 tests |
| Developmental and epileptic encephalopathy, 42 | 4 tests |
| Developmental and epileptic encephalopathy, 43 | 1 test |
| Developmental and epileptic encephalopathy, 44 | 2 tests |
| Developmental and epileptic encephalopathy, 45 | 2 tests |
| Developmental and epileptic encephalopathy, 46 | 2 tests |
| Developmental and epileptic encephalopathy, 47 | 2 tests |
| Developmental and epileptic encephalopathy, 48 | 2 tests |
| Developmental and epileptic encephalopathy, 49 | 2 tests |
| Developmental and epileptic encephalopathy, 5 | 2 tests |
| Developmental and epileptic encephalopathy, 50 | 2 tests |
| Developmental and epileptic encephalopathy, 51 | 2 tests |
| Developmental and epileptic encephalopathy, 52 | 2 tests |
| Developmental and epileptic encephalopathy, 53 | 2 tests |
| Developmental and epileptic encephalopathy, 54 | 2 tests |
| Developmental and epileptic encephalopathy, 7 | 4 tests |
| Developmental and epileptic encephalopathy, 9 | 4 tests |
| Developmental delay with autism spectrum disorder and gait instability | 2 tests |
| Developmental delay with short stature, dysmorphic facial features, and sparse hair | 2 tests |
| Developmental malformations-deafness-dystonia syndrome | 1 test |
| DiGeorge syndrome | 3 tests |
| Diabetes insipidus, nephrogenic, X-linked | 1 test |
| Diabetes insipidus, nephrogenic, autosomal | 1 test |
| Diabetes mellitus type 1 | 8 tests |
| Diabetes mellitus, ketosis-prone | 1 test |
| Diabetes mellitus, noninsulin-dependent, 1 | 1 test |
| Diabetes mellitus, noninsulin-dependent, 5 | 1 test |
| Diabetes mellitus, transient neonatal, 1 | 2 tests |
| Diabetes mellitus, transient neonatal, 2 | 2 tests |
| Diabetes mellitus, transient neonatal, 3 | 1 test |
| Diamond-Blackfan anemia 1 | 4 tests |
| Diamond-Blackfan anemia 10 | 4 tests |
| Diamond-Blackfan anemia 11 | 2 tests |
| Diamond-Blackfan anemia 12 | 2 tests |
| Diamond-Blackfan anemia 13 | 2 tests |
| Diamond-Blackfan anemia 14 with mandibulofacial dysostosis | 2 tests |
| Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | 2 tests |
| Diamond-Blackfan anemia 3 | 2 tests |
| Diamond-Blackfan anemia 4 | 4 tests |
| Diamond-Blackfan anemia 5 | 4 tests |
| Diamond-Blackfan anemia 6 | 4 tests |
| Diamond-Blackfan anemia 7 | 4 tests |
| Diamond-Blackfan anemia 8 | 2 tests |
| Diamond-Blackfan anemia 9 | 2 tests |
| Diaphanospondylodysostosis | 2 tests |
| Diaphragmatic hernia 3 | 1 test |
| Diaphyseal dysplasia | 2 tests |
| Diaphyseal medullary stenosis-bone malignancy syndrome | 1 test |
| Dias-Logan syndrome | 2 tests |
| Diastrophic dysplasia | 2 tests |
| Dicarboxylic aminoaciduria | 2 tests |
| Diffuse nonepidermolytic palmoplantar keratoderma | 1 test |
| Dihydropteridine reductase deficiency | 2 tests |
| Dihydropyrimidinase deficiency | 2 tests |
| Dihydropyrimidine dehydrogenase deficiency | 7 tests |
| Dilated cardiomyopathy 1A | 2 tests |
| Dilated cardiomyopathy 1AA | 2 tests |
| Dilated cardiomyopathy 1BB | 1 test |
| Dilated cardiomyopathy 1C | 3 tests |
| Dilated cardiomyopathy 1CC | 1 test |
| Dilated cardiomyopathy 1D | 4 tests |
| Dilated cardiomyopathy 1DD | 1 test |
| Dilated cardiomyopathy 1E | 2 tests |
| Dilated cardiomyopathy 1EE | 1 test |
| Dilated cardiomyopathy 1FF | 1 test |
| Dilated cardiomyopathy 1G | 1 test |
| Dilated cardiomyopathy 1GG | 1 test |
| Dilated cardiomyopathy 1HH | 2 tests |
| Dilated cardiomyopathy 1I | 1 test |
| Dilated cardiomyopathy 1II | 1 test |
| Dilated cardiomyopathy 1J | 1 test |
| Dilated cardiomyopathy 1JJ | 1 test |
| Dilated cardiomyopathy 1KK | 3 tests |
| Dilated cardiomyopathy 1L | 2 tests |
| Dilated cardiomyopathy 1M | 1 test |
| Dilated cardiomyopathy 1NN | 1 test |
| Dilated cardiomyopathy 1O | 1 test |
| Dilated cardiomyopathy 1P | 1 test |
| Dilated cardiomyopathy 1R | 2 tests |
| Dilated cardiomyopathy 1S | 4 tests |
| Dilated cardiomyopathy 1U | 2 tests |
| Dilated cardiomyopathy 1V | 1 test |
| Dilated cardiomyopathy 1W | 1 test |
| Dilated cardiomyopathy 1X | 2 tests |
| Dilated cardiomyopathy 1Y | 2 tests |
| Dilated cardiomyopathy 1Z | 1 test |
| Dilated cardiomyopathy 2A | 1 test |
| Dilated cardiomyopathy 2B | 1 test |
| Dilated cardiomyopathy 3B | 2 tests |
| Dimethylglycine dehydrogenase deficiency | 2 tests |
| Disorder due cytochrome p450 CYP2D6 variant | 5 tests |
| Distal 10q deletion syndrome | 2 tests |
| Distal 16p11.2 microdeletion syndrome | 1 test |
| Distal 7q11.23 microdeletion syndrome | 2 tests |
| Distal arthrogryposis type 2B1 | 8 tests |
| Distal arthrogryposis type 5D | 2 tests |
| Distal myopathy with anterior tibial onset | 4 tests |
| Distal myopathy with posterior leg and anterior hand involvement | 2 tests |
| Distal myopathy, Tateyama type | 4 tests |
| Distichiasis-lymphedema syndrome | 4 tests |
| Dizygotic twins | 2 tests |
| Dominant beta-thalassemia | 4 tests |
| Dominant dystrophic epidermolysis bullosa with absence of skin | 4 tests |
| Donnai-Barrow syndrome | 2 tests |
| Dopa-responsive dystonia due to sepiapterin reductase deficiency | 1 test |
| Dowling-Degos disease 1 | 6 tests |
| Dowling-Degos disease 2 | 2 tests |
| Dowling-Degos disease 4 | 2 tests |
| Down syndrome | 1 test |
| Doyne honeycomb retinal dystrophy | 1 test |
| Drash syndrome | 4 tests |
| Duane retraction syndrome 2 | 1 test |
| Duane retraction syndrome 3 with or without deafness | 1 test |
| Duane-radial ray syndrome | 4 tests |
| Dubin-Johnson syndrome | 2 tests |
| Duchenne muscular dystrophy | 4 tests |
| Dyggve-Melchior-Clausen syndrome | 2 tests |
| Dyschromatosis universalis hereditaria 3 | 1 test |
| Dyskeratosis congenita, X-linked | 4 tests |
| Dyskeratosis congenita, autosomal dominant 1 | 2 tests |
| Dyskeratosis congenita, autosomal dominant 2 | 8 tests |
| Dyskeratosis congenita, autosomal dominant 3 | 2 tests |
| Dyskeratosis congenita, autosomal dominant 6 | 2 tests |
| Dyskeratosis congenita, autosomal recessive 1 | 2 tests |
| Dyskeratosis congenita, autosomal recessive 2 | 2 tests |
| Dyskeratosis congenita, autosomal recessive 3 | 2 tests |
| Dyskeratosis congenita, autosomal recessive 5 | 4 tests |
| Dyskeratosis congenita, autosomal recessive 6 | 2 tests |
| Dyskinesia with orofacial involvement, autosomal dominant | 1 test |
| Dyslexia, susceptibility to, 1 | 1 test |
| Dyslexia, susceptibility to, 2 | 1 test |
| Dystonia 12 | 2 tests |
| Dystonia 16 | 2 tests |
| Dystonia 23 | 1 test |
| Dystonia 24 | 1 test |
| Dystonia 25 | 1 test |
| Dystonia 27 | 1 test |
| Dystonia 28, childhood-onset | 1 test |
| Dystonia 5 | 2 tests |
| Dystonia 9 | 2 tests |
| Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 1 test |
| EAST syndrome | 1 test |
| EDICT syndrome | 2 tests |
| EEM syndrome | 2 tests |
| Early myoclonic encephalopathy | 2 tests |
| Early-onset Lafora body disease | 2 tests |
| Early-onset Parkinson disease 20 | 1 test |
| Early-onset generalized limb-onset dystonia | 4 tests |
| Early-onset myopathy with fatal cardiomyopathy | 2 tests |
| Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | 2 tests |
| Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome | 2 tests |
| Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | 2 tests |
| Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | 2 tests |
| Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant | 3 tests |
| Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | 1 test |
| Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type | 2 tests |
| Ectodermal dysplasia 13, hair/tooth type | 2 tests |
| Ectodermal dysplasia 4, hair/nail type | 2 tests |
| Ectodermal dysplasia 7, hair/nail type | 2 tests |
| Ectodermal dysplasia 9, hair/nail type | 2 tests |
| Ectodermal dysplasia and immunodeficiency 1 | 2 tests |
| Ectodermal dysplasia and immunodeficiency 2 | 2 tests |
| Ectodermal dysplasia-syndactyly syndrome 1 | 2 tests |
| Ectopia lentis 1, isolated, autosomal dominant | 2 tests |
| Ectopia lentis et pupillae | 1 test |
| Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | 2 tests |
| Eculizumab, poor response to | 1 test |
| Efavirenz response | 5 tests |
| Ehlers-Danlos syndrome due to tenascin-X deficiency | 2 tests |
| Ehlers-Danlos syndrome progeroid type | 1 test |
| Ehlers-Danlos syndrome, arthrochalasia type | 4 tests |
| Ehlers-Danlos syndrome, cardiac valvular type | 2 tests |
| Ehlers-Danlos syndrome, classic type | 5 tests |
| Ehlers-Danlos syndrome, dermatosparaxis type | 1 test |
| Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 1 test |
| Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | 1 test |
| Ehlers-Danlos syndrome, musculocontractural type | 1 test |
| Ehlers-Danlos syndrome, musculocontractural type 2 | 1 test |
| Ehlers-Danlos syndrome, periodontal type 1 | 1 test |
| Ehlers-Danlos syndrome, periodontal type 2 | 1 test |
| Ehlers-Danlos syndrome, spondylocheirodysplastic type | 2 tests |
| Ehlers-Danlos syndrome, spondylodysplastic type, 2 | 1 test |
| Ehlers-Danlos syndrome, type 4 | 2 tests |
| Eichsfeld type congenital muscular dystrophy | 2 tests |
| Eiken syndrome | 1 test |
| Elevated circulating creatine kinase concentration | 2 tests |
| Elliptocytosis 1 | 1 test |
| Elliptocytosis 2 | 1 test |
| Ellis-van Creveld syndrome | 8 tests |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 2 tests |
| Emery-Dreifuss muscular dystrophy 3, autosomal recessive | 2 tests |
| Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 1 test |
| Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 1 test |
| Emery-Dreifuss muscular dystrophy 7, autosomal dominant | 1 test |
| Encephalocraniocutaneous lipomatosis | 2 tests |
| Encephalopathy due to GLUT1 deficiency | 4 tests |
| Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | 2 tests |
| Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 | 2 tests |
| Encephalopathy, acute, infection-induced, susceptibility to, 4 | 2 tests |
| Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | 2 tests |
| Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | 2 tests |
| Encephalopathy, progressive, with amyotrophy and optic atrophy | 2 tests |
| Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome | 2 tests |
| Endocrine-cerebro-osteodysplasia syndrome | 2 tests |
| Endometrial carcinoma | 6 tests |
| Enhanced S-cone syndrome | 1 test |
| Enterokinase deficiency | 2 tests |
| Eosinophil peroxidase deficiency | 1 test |
| Epidermal nevus | 3 tests |
| Epidermodysplasia verruciformis, susceptibility to, 1 | 4 tests |
| Epidermolysis bullosa pruriginosa | 4 tests |
| Epidermolysis bullosa simplex 1A, generalized severe | 8 tests |
| Epidermolysis bullosa simplex 1C, localized | 12 tests |
| Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive | 10 tests |
| Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | 2 tests |
| Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive | 3 tests |
| Epidermolysis bullosa simplex 5B, with muscular dystrophy | 2 tests |
| Epidermolysis bullosa simplex 5C, with pyloric atresia | 2 tests |
| Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss | 2 tests |
| Epidermolysis bullosa simplex 7, with nephropathy and deafness | 2 tests |
| Epidermolysis bullosa simplex due to plakophilin deficiency | 1 test |
| Epidermolysis bullosa simplex with migratory circinate erythema | 4 tests |
| Epidermolysis bullosa simplex with mottled pigmentation | 2 tests |
| Epidermolysis bullosa simplex with nail dystrophy | 2 tests |
| Epidermolysis bullosa simplex, Koebner type | 8 tests |
| Epidermolysis bullosa simplex, Ogna type | 2 tests |
| Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | 2 tests |
| Epidermolytic ichthyosis | 4 tests |
| Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | 2 tests |
| Epilepsy, childhood absence 2 | 1 test |
| Epilepsy, childhood absence, susceptibility to, 5 | 2 tests |
| Epilepsy, childhood absence, susceptibility to, 6 | 1 test |
| Epilepsy, early-onset, vitamin B6-dependent | 1 test |
| Epilepsy, familial adult myoclonic, 2 | 1 test |
| Epilepsy, familial adult myoclonic, 5 | 1 test |
| Epilepsy, familial focal, with variable foci 1 | 1 test |
| Epilepsy, familial focal, with variable foci 2 | 1 test |
| Epilepsy, familial focal, with variable foci 3 | 1 test |
| Epilepsy, familial temporal lobe, 1 | 2 tests |
| Epilepsy, idiopathic generalized, susceptibility to, 10 | 3 tests |
| Epilepsy, idiopathic generalized, susceptibility to, 11 | 3 tests |
| Epilepsy, idiopathic generalized, susceptibility to, 12 | 2 tests |
| Epilepsy, idiopathic generalized, susceptibility to, 13 | 2 tests |
| Epilepsy, idiopathic generalized, susceptibility to, 14 | 1 test |
| Epilepsy, idiopathic generalized, susceptibility to, 8 | 2 tests |
| Epilepsy, idiopathic generalized, susceptibility to, 9 | 1 test |
| Epilepsy, progressive myoclonic, 1B | 2 tests |
| Episodic ataxia type 1 | 2 tests |
| Episodic ataxia type 2 | 2 tests |
| Episodic ataxia type 5 | 1 test |
| Episodic ataxia type 6 | 1 test |
| Episodic kinesigenic dyskinesia 1 | 1 test |
| Episodic pain syndrome, familial, 2 | 1 test |
| Epithelial basement membrane dystrophy | 1 test |
| Epithelial recurrent erosion dystrophy | 1 test |
| Epsilon-trimethyllysine hydroxylase deficiency | 2 tests |
| Erythrocyte AMP deaminase deficiency | 1 test |
| Erythrocytosis, familial, 3 | 1 test |
| Erythrocytosis, familial, 4 | 1 test |
| Erythrokeratodermia variabilis et progressiva 1 | 6 tests |
| Essential fructosuria | 1 test |
| Essential hypertension | 10 tests |
| Essential pentosuria | 1 test |
| Estrogen resistance syndrome | 1 test |
| Ethylmalonic encephalopathy | 3 tests |
| Euthyroid goiter | 1 test |
| Ewing sarcoma | 2 tests |
| Exercise intolerance, riboflavin-responsive | 1 test |
| Exercise-induced hyperinsulinism | 2 tests |
| Exostoses, multiple, type 2 | 2 tests |
| Extraskeletal myxoid chondrosarcoma | 2 tests |
| Exudative vitreoretinopathy 1 | 2 tests |
| Exudative vitreoretinopathy 2, X-linked | 1 test |
| Exudative vitreoretinopathy 4 | 2 tests |
| Exudative vitreoretinopathy 5 | 1 test |
| Exudative vitreoretinopathy 6 | 1 test |
| FADD-related immunodeficiency | 2 tests |
| FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6 | 2 tests |
| FG syndrome 1 | 2 tests |
| FG syndrome 2 | 4 tests |
| FG syndrome 4 | 8 tests |
| FRAXE | 2 tests |
| Fabry disease | 5 tests |
| Facial dysmorphism-immunodeficiency-livedo-short stature syndrome | 2 tests |
| Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome | 1 test |
| Facial paresis, hereditary congenital, 3 | 1 test |
| Facioscapulohumeral muscular dystrophy 2 | 1 test |
| Factor 5 and Factor VIII, combined deficiency of, 2 | 1 test |
| Factor H deficiency | 4 tests |
| Factor V and factor VIII, combined deficiency of, type 1 | 2 tests |
| Factor V deficiency | 2 tests |
| Factor VII deficiency | 1 test |
| Factor VIII deficiency | 1 test |
| Factor X deficiency | 2 tests |
| Factor XII deficiency disease | 2 tests |
| Factor XIII, A subunit, deficiency of | 1 test |
| Factor XIII, b subunit, deficiency of | 1 test |
| Familial Mediterranean fever | 2 tests |
| Familial Mediterranean fever, autosomal dominant | 2 tests |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 2 tests |
| Familial acute necrotizing encephalopathy | 2 tests |
| Familial adenomatous polyposis 1 | 7 tests |
| Familial adenomatous polyposis 2 | 2 tests |
| Familial adenomatous polyposis 3 | 1 test |
| Familial adenomatous polyposis 4 | 1 test |
| Familial amyloid nephropathy with urticaria AND deafness | 2 tests |
| Familial apolipoprotein C-II deficiency | 1 test |
| Familial atrial myxoma | 1 test |
| Familial benign flecked retina | 1 test |
| Familial benign pemphigus | 1 test |
| Familial cancer of breast | 37 tests |
| Familial cavitary optic disk anomaly | 1 test |
| Familial chronic mucocutaneous candidiasis | 2 tests |
| Familial clubfoot due to 17q23.1q23.2 microduplication | 2 tests |
| Familial cold autoinflammatory syndrome 1 | 1 test |
| Familial cold autoinflammatory syndrome 2 | 1 test |
| Familial cold autoinflammatory syndrome 3 | 1 test |
| Familial cold autoinflammatory syndrome 4 | 1 test |
| Familial congenital nasolacrimal duct obstruction | 1 test |
| Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | 2 tests |
| Familial cylindromatosis | 2 tests |
| Familial digital arthropathy-brachydactyly | 1 test |
| Familial dysautonomia | 1 test |
| Familial dysfibrinogenemia | 10 tests |
| Familial encephalopathy with neuroserpin inclusion bodies | 2 tests |
| Familial episodic pain syndrome with predominantly lower limb involvement | 1 test |
| Familial episodic pain syndrome with predominantly upper body involvement | 1 test |
| Familial expansile osteolysis | 1 test |
| Familial gestational hyperthyroidism | 2 tests |
| Familial hemophagocytic lymphohistiocytosis 2 | 4 tests |
| Familial hemophagocytic lymphohistiocytosis 3 | 4 tests |
| Familial hemophagocytic lymphohistiocytosis 4 | 4 tests |
| Familial hemophagocytic lymphohistiocytosis 5 | 2 tests |
| Familial hyperaldosteronism type III | 1 test |
| Familial hyperprolactinemia | 1 test |
| Familial hyperthyroidism due to mutations in TSH receptor | 2 tests |
| Familial hypobetalipoproteinemia 1 | 1 test |
| Familial hypobetalipoproteinemia 2 | 1 test |
| Familial hypocalciuric hypercalcemia 1 | 4 tests |
| Familial hypocalciuric hypercalcemia 2 | 1 test |
| Familial hypocalciuric hypercalcemia 3 | 1 test |
| Familial hypokalemia-hypomagnesemia | 4 tests |
| Familial hypoparathyroidism | 3 tests |
| Familial infantile myasthenia | 2 tests |
| Familial infantile myoclonic epilepsy | 1 test |
| Familial isolated congenital asplenia | 2 tests |
| Familial isolated deficiency of vitamin E | 1 test |
| Familial juvenile hyperuricemic nephropathy type 1 | 5 tests |
| Familial juvenile hyperuricemic nephropathy type 2 | 1 test |
| Familial medullary thyroid carcinoma | 3 tests |
| Familial meningioma | 7 tests |
| Familial multiple trichoepitheliomata | 1 test |
| Familial partial lipodystrophy, Dunnigan type | 2 tests |
| Familial porphyria cutanea tarda | 12 tests |
| Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome | 1 test |
| Familial pseudohyperkalemia | 1 test |
| Familial pulmonary capillary hemangiomatosis | 1 test |
| Familial renal glucosuria | 1 test |
| Familial retinal arterial macroaneurysm | 1 test |
| Familial scaphocephaly syndrome, McGillivray type | 2 tests |
| Familial spontaneous pneumothorax | 2 tests |
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness | 2 tests |
| Familial temporal lobe epilepsy 5 | 1 test |
| Familial temporal lobe epilepsy 7 | 1 test |
| Familial temporal lobe epilepsy 8 | 1 test |
| Familial type 3 hyperlipoproteinemia | 2 tests |
| Familial type 5 hyperlipoproteinemia | 1 test |
| Familial ventricular tachycardia | 2 tests |
| Familial visceral amyloidosis, Ostertag type | 4 tests |
| Fanconi anemia complementation group A | 4 tests |
| Fanconi anemia complementation group B | 4 tests |
| Fanconi anemia complementation group C | 2 tests |
| Fanconi anemia complementation group D1 | 2 tests |
| Fanconi anemia complementation group D2 | 4 tests |
| Fanconi anemia complementation group E | 2 tests |
| Fanconi anemia complementation group F | 2 tests |
| Fanconi anemia complementation group G | 2 tests |
| Fanconi anemia complementation group I | 2 tests |
| Fanconi anemia complementation group J | 4 tests |
| Fanconi anemia complementation group L | 2 tests |
| Fanconi anemia complementation group N | 4 tests |
| Fanconi anemia complementation group O | 2 tests |
| Fanconi anemia complementation group P | 2 tests |
| Fanconi anemia complementation group Q | 2 tests |
| Fanconi anemia complementation group R | 2 tests |
| Fanconi anemia complementation group T | 2 tests |
| Fanconi anemia complementation group U | 2 tests |
| Fanconi anemia complementation group V | 2 tests |
| Fanconi renotubular syndrome 2 | 2 tests |
| Fanconi renotubular syndrome 3 | 2 tests |
| Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | 4 tests |
| Fanconi-Bickel syndrome | 2 tests |
| Farber lipogranulomatosis | 2 tests |
| Fasting plasma glucose level quantitative trait locus 5 | 1 test |
| Fatal familial insomnia | 1 test |
| Fatal infantile hypertonic myofibrillar myopathy | 2 tests |
| Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | 2 tests |
| Fatty acyl-CoA reductase 1 deficiency | 2 tests |
| Febrile seizures, familial, 11 | 1 test |
| Febrile seizures, familial, 4 | 1 test |
| Feingold syndrome type 2 | 2 tests |
| Female infertility due to zona pellucida defect | 1 test |
| Fetal akinesia deformation sequence 1 | 6 tests |
| Fetal akinesia-cerebral and retinal hemorrhage syndrome | 2 tests |
| Fetal hemoglobin quantitative trait locus 1 | 20 tests |
| Fibrochondrogenesis 1 | 4 tests |
| Fibrochondrogenesis 2 | 2 tests |
| Fibromatosis, gingival, 1 | 1 test |
| Fibrosis of extraocular muscles, congenital, 2 | 1 test |
| Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | 1 test |
| Fibrosis of extraocular muscles, congenital, 5 | 1 test |
| Fibrous dysplasia of jaw | 1 test |
| Filippi syndrome | 2 tests |
| Finnish congenital nephrotic syndrome | 2 tests |
| Finnish type amyloidosis | 1 test |
| Fish-eye disease | 2 tests |
| Fleck corneal dystrophy | 1 test |
| Floating-Harbor syndrome | 2 tests |
| Focal dermal hypoplasia | 2 tests |
| Focal facial dermal dysplasia type III | 2 tests |
| Focal facial dermal dysplasia type IV | 2 tests |
| Focal segmental glomerulosclerosis 1 | 1 test |
| Focal segmental glomerulosclerosis 2 | 1 test |
| Focal segmental glomerulosclerosis 3, susceptibility to | 1 test |
| Focal segmental glomerulosclerosis 4, susceptibility to | 2 tests |
| Focal segmental glomerulosclerosis 5 | 1 test |
| Focal segmental glomerulosclerosis 6 | 1 test |
| Focal segmental glomerulosclerosis 7 | 1 test |
| Focal segmental glomerulosclerosis 8 | 1 test |
| Focal segmental glomerulosclerosis 9 | 1 test |
| Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome | 1 test |
| Foveal hypoplasia 1 | 2 tests |
| Fowler syndrome | 2 tests |
| Fragile X syndrome | 4 tests |
| Fragile X-associated tremor/ataxia syndrome | 2 tests |
| Frank-Ter Haar syndrome | 2 tests |
| Fraser syndrome 1 | 6 tests |
| Frasier syndrome | 4 tests |
| Freeman-Sheldon syndrome | 2 tests |
| Frias syndrome | 2 tests |
| Friedreich ataxia 1 | 4 tests |
| Frontometaphyseal dysplasia 1 | 3 tests |
| Frontometaphyseal dysplasia 2 | 2 tests |
| Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome | 2 tests |
| Frontonasal dysplasia with alopecia and genital anomaly | 4 tests |
| Frontorhiny | 2 tests |
| Frontotemporal dementia | 4 tests |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | 1 test |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 1 test |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | 2 tests |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 1 test |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | 1 test |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | 1 test |
| Fructose-biphosphatase deficiency | 4 tests |
| Fucosidosis | 2 tests |
| Fucosyltransferase 6 deficiency | 2 tests |
| Fuhrmann syndrome | 2 tests |
| Fumarase deficiency | 4 tests |
| GAPO syndrome | 2 tests |
| GLYCEROL QUANTITATIVE TRAIT LOCUS | 1 test |
| GM1 gangliosidosis type 2 | 2 tests |
| GM1 gangliosidosis type 3 | 2 tests |
| GM3 synthase deficiency | 1 test |
| GNPTG-mucolipidosis | 2 tests |
| GRACILE syndrome | 2 tests |
| GRN-related frontotemporal lobar degeneration with Tdp43 inclusions | 3 tests |
| GTP cyclohydrolase I deficiency | 4 tests |
| Galactosylceramide beta-galactosidase deficiency | 4 tests |
| Gallbladder disease 4 | 1 test |
| Galloway-Mowat syndrome 1 | 2 tests |
| Gamma-aminobutyric acid transaminase deficiency | 2 tests |
| Gamma-glutamylcysteine synthetase deficiency | 2 tests |
| Gastric lymphoma | 1 test |
| Gastrointestinal stromal tumor | 6 tests |
| Gaucher disease due to saposin C deficiency | 2 tests |
| Gaucher disease perinatal lethal | 4 tests |
| Gaucher disease type I | 4 tests |
| Gaucher disease type II | 4 tests |
| Gaucher disease type III | 4 tests |
| Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | 4 tests |
| Gaze palsy, familial horizontal, with progressive scoliosis 1 | 1 test |
| Gelatinous droplike corneal dystrophy | 1 test |
| Geleophysic dysplasia 1 | 2 tests |
| Geleophysic dysplasia 2 | 4 tests |
| Generalized dominant dystrophic epidermolysis bullosa | 8 tests |
| Generalized epilepsy with febrile seizures plus, type 1 | 1 test |
| Generalized epilepsy with febrile seizures plus, type 2 | 4 tests |
| Generalized epilepsy with febrile seizures plus, type 7 | 2 tests |
| Generalized epilepsy with febrile seizures plus, type 9 | 1 test |
| Generalized epilepsy-paroxysmal dyskinesia syndrome | 2 tests |
| Generalized juvenile polyposis/juvenile polyposis coli | 6 tests |
| Generalized pustular psoriasis | 1 test |
| Genitopatellar syndrome | 2 tests |
| Geroderma osteodysplastica | 2 tests |
| Gerstmann-Straussler-Scheinker syndrome | 3 tests |
| Ghosal hematodiaphyseal dysplasia | 2 tests |
| Giant axonal neuropathy 1 | 1 test |
| Giant axonal neuropathy 2 | 1 test |
| Gilbert syndrome | 1 test |
| Gillespie syndrome | 2 tests |
| Gillessen-Kaesbach-Nishimura syndrome | 1 test |
| Glanzmann thrombasthenia | 5 tests |
| Glaucoma 1, open angle, A | 1 test |
| Glaucoma 1, open angle, F | 1 test |
| Glaucoma 1, open angle, G | 1 test |
| Glaucoma 1, open angle, O | 1 test |
| Glaucoma 3, primary congenital, D | 1 test |
| Glaucoma 3, primary congenital, E | 1 test |
| Glaucoma 3A | 2 tests |
| Glaucoma, normal tension, susceptibility to | 3 tests |
| Glioma susceptibility 1 | 4 tests |
| Glioma susceptibility 2 | 2 tests |
| Glioma susceptibility 3 | 2 tests |
| Globozoospermia | 1 test |
| Glomerulopathy with fibronectin deposits 2 | 1 test |
| Glomuvenous malformation | 1 test |
| Glucocorticoid deficiency 1 | 1 test |
| Glucocorticoid deficiency 2 | 1 test |
| Glucocorticoid deficiency 4 | 1 test |
| Glucocorticoid deficiency with achalasia | 2 tests |
| Glucocorticoid resistance | 1 test |
| Glucocorticoid therapy, response to | 1 test |
| Glucocorticoid-remediable aldosteronism | 1 test |
| Glucose-6-phosphate transport defect | 2 tests |
| Glutamate formiminotransferase deficiency | 2 tests |
| Glutamate pyruvate transaminase 2 deficiency | 2 tests |
| Glutaric aciduria, type 1 | 2 tests |
| Glutaryl-CoA oxidase deficiency | 2 tests |
| Glutathione synthetase deficiency without 5-oxoprolinuria | 1 test |
| Gluthathione peroxidase deficiency | 2 tests |
| Glycine N-methyltransferase deficiency | 2 tests |
| Glycogen storage disease IXa1 | 4 tests |
| Glycogen storage disease IXb | 2 tests |
| Glycogen storage disease IXc | 4 tests |
| Glycogen storage disease IXd | 2 tests |
| Glycogen storage disease XV | 2 tests |
| Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2 tests |
| Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | 1 test |
| Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | 2 tests |
| Glycogen storage disease due to muscle and heart glycogen synthase deficiency | 2 tests |
| Glycogen storage disease due to muscle beta-enolase deficiency | 2 tests |
| Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | 2 tests |
| Glycogen storage disease type III | 4 tests |
| Glycogen storage disease type X | 2 tests |
| Glycogen storage disease, type II | 4 tests |
| Glycogen storage disease, type IV | 2 tests |
| Glycogen storage disease, type V | 3 tests |
| Glycogen storage disease, type VI | 2 tests |
| Glycogen storage disease, type VII | 2 tests |
| Glycogen storage disorder due to hepatic glycogen synthase deficiency | 2 tests |
| Gnathodiaphyseal dysplasia | 4 tests |
| Goldberg-Shprintzen syndrome | 2 tests |
| Gonadotropin-independent familial sexual precocity | 2 tests |
| Gordon syndrome | 2 tests |
| Gorlin syndrome | 8 tests |
| Graft-versus-host disease, susceptibility to | 1 test |
| Grange syndrome | 2 tests |
| Granulomatous disease, chronic, X-linked | 3 tests |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | 3 tests |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 | 2 tests |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 | 2 tests |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 | 2 tests |
| Gray platelet syndrome | 2 tests |
| Grebe syndrome | 2 tests |
| Greenberg dysplasia | 2 tests |
| Greig cephalopolysyndactyly syndrome | 4 tests |
| Griscelli syndrome type 1 | 2 tests |
| Griscelli syndrome type 2 | 2 tests |
| Griscelli syndrome type 3 | 2 tests |
| Groenouw corneal dystrophy type I | 1 test |
| Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome | 2 tests |
| Growth delay due to insulin-like growth factor I resistance | 1 test |
| Growth delay due to insulin-like growth factor type 1 deficiency | 2 tests |
| Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | 1 test |
| Guillain-Barre syndrome, familial | 4 tests |
| Guttmacher syndrome | 3 tests |
| H syndrome | 2 tests |
| HNSHA due to aldolase A deficiency | 2 tests |
| HSD10 mitochondrial disease | 4 tests |
| Haim-Munk syndrome | 2 tests |
| Hajdu-Cheney syndrome | 2 tests |
| Hamartoma of hypothalamus | 2 tests |
| Hand-foot-genital syndrome | 1 test |
| Hartsfield-Bixler-Demyer syndrome | 4 tests |
| Hashimoto thyroiditis | 1 test |
| Hawkinsinuria | 2 tests |
| Hb SS disease | 4 tests |
| Hearing loss, X-linked 1 | 1 test |
| Hearing loss, X-linked 6 | 1 test |
| Heart defect - tongue hamartoma - polysyndactyly syndrome | 2 tests |
| Heart-hand syndrome, Slovenian type | 4 tests |
| Hecht syndrome | 2 tests |
| Heimler syndrome 1 | 1 test |
| Heimler syndrome 2 | 1 test |
| Heinz body anemia | 14 tests |
| Helicobacter pylori infection, susceptibility to | 2 tests |
| Helicoid peripapillary chorioretinal degeneration | 1 test |
| Heme oxygenase 1 deficiency | 2 tests |
| Hemochromatosis type 1 | 3 tests |
| Hemochromatosis type 2A | 2 tests |
| Hemochromatosis type 2B | 2 tests |
| Hemochromatosis type 3 | 2 tests |
| Hemochromatosis type 4 | 2 tests |
| Hemochromatosis type 5 | 1 test |
| Hemoglobin H disease | 4 tests |
| Hemolytic anemia due to adenylate kinase deficiency | 2 tests |
| Hemolytic anemia due to glucophosphate isomerase deficiency | 2 tests |
| Hemolytic anemia due to hexokinase deficiency | 3 tests |
| Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency | 2 tests |
| Hemolytic uremic syndrome, atypical, susceptibility to, 1 | 10 tests |
| Hemorrhage, intracerebral, susceptibility to | 4 tests |
| Hennekam lymphangiectasia-lymphedema syndrome 1 | 2 tests |
| Hennekam lymphangiectasia-lymphedema syndrome 2 | 3 tests |
| Heparin cofactor II deficiency | 1 test |
| Hepatic adenomas, familial | 1 test |
| Hepatic methionine adenosyltransferase deficiency | 4 tests |
| Hepatic veno-occlusive disease-immunodeficiency syndrome | 1 test |
| Hepatitis B virus, susceptibility to | 3 tests |
| Hepatitis C virus, susceptibility to | 7 tests |
| Hepatocellular carcinoma | 8 tests |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | 2 tests |
| Hereditary acrodermatitis enteropathica | 2 tests |
| Hereditary angioedema type 1 | 2 tests |
| Hereditary angioedema type 3 | 2 tests |
| Hereditary antithrombin deficiency | 2 tests |
| Hereditary arterial and articular multiple calcification syndrome | 1 test |
| Hereditary cerebral amyloid angiopathy, Icelandic type | 1 test |
| Hereditary coproporphyria | 8 tests |
| Hereditary cryohydrocytosis with reduced stomatin | 2 tests |
| Hereditary diffuse gastric adenocarcinoma | 5 tests |
| Hereditary diffuse leukoencephalopathy with spheroids | 2 tests |
| Hereditary factor IX deficiency disease | 4 tests |
| Hereditary factor VIII deficiency disease | 4 tests |
| Hereditary factor XI deficiency disease | 2 tests |
| Hereditary fructosuria | 4 tests |
| Hereditary hypercarotenemia and vitamin A deficiency | 2 tests |
| Hereditary hyperferritinemia with congenital cataracts | 2 tests |
| Hereditary hypotrichosis with recurrent skin vesicles | 1 test |
| Hereditary insensitivity to pain with anhidrosis | 2 tests |
| Hereditary intrinsic factor deficiency | 1 test |
| Hereditary leiomyomatosis and renal cell cancer | 2 tests |
| Hereditary liability to pressure palsies | 2 tests |
| Hereditary lymphedema type I | 2 tests |
| Hereditary motor and sensory neuropathy with optic atrophy | 2 tests |
| Hereditary motor and sensory neuropathy, Okinawa type | 1 test |
| Hereditary myopathy with lactic acidosis due to ISCU deficiency | 2 tests |
| Hereditary pancreatitis | 8 tests |
| Hereditary sclerosing poikiloderma with tendon and pulmonary involvement | 1 test |
| Hereditary sensory and autonomic neuropathy type 1 | 2 tests |
| Hereditary sensory and autonomic neuropathy type 6 | 1 test |
| Hereditary sensory and autonomic neuropathy type 7 | 1 test |
| Hereditary sensory and autonomic neuropathy with spastic paraplegia | 1 test |
| Hereditary sensory neuropathy-deafness-dementia syndrome | 1 test |
| Hereditary spastic paraplegia 10 | 1 test |
| Hereditary spastic paraplegia 11 | 2 tests |
| Hereditary spastic paraplegia 12 | 1 test |
| Hereditary spastic paraplegia 13 | 1 test |
| Hereditary spastic paraplegia 15 | 2 tests |
| Hereditary spastic paraplegia 17 | 1 test |
| Hereditary spastic paraplegia 18 | 1 test |
| Hereditary spastic paraplegia 2 | 1 test |
| Hereditary spastic paraplegia 26 | 1 test |
| Hereditary spastic paraplegia 28 | 1 test |
| Hereditary spastic paraplegia 30 | 1 test |
| Hereditary spastic paraplegia 31 | 2 tests |
| Hereditary spastic paraplegia 33 | 2 tests |
| Hereditary spastic paraplegia 35 | 1 test |
| Hereditary spastic paraplegia 39 | 1 test |
| Hereditary spastic paraplegia 3A | 1 test |
| Hereditary spastic paraplegia 4 | 2 tests |
| Hereditary spastic paraplegia 42 | 1 test |
| Hereditary spastic paraplegia 43 | 1 test |
| Hereditary spastic paraplegia 44 | 1 test |
| Hereditary spastic paraplegia 45 | 1 test |
| Hereditary spastic paraplegia 46 | 1 test |
| Hereditary spastic paraplegia 47 | 1 test |
| Hereditary spastic paraplegia 48 | 1 test |
| Hereditary spastic paraplegia 49 | 1 test |
| Hereditary spastic paraplegia 50 | 1 test |
| Hereditary spastic paraplegia 51 | 1 test |
| Hereditary spastic paraplegia 53 | 1 test |
| Hereditary spastic paraplegia 54 | 1 test |
| Hereditary spastic paraplegia 55 | 1 test |
| Hereditary spastic paraplegia 56 | 1 test |
| Hereditary spastic paraplegia 57 | 1 test |
| Hereditary spastic paraplegia 5A | 1 test |
| Hereditary spastic paraplegia 6 | 2 tests |
| Hereditary spastic paraplegia 61 | 1 test |
| Hereditary spastic paraplegia 62 | 1 test |
| Hereditary spastic paraplegia 63 | 1 test |
| Hereditary spastic paraplegia 64 | 1 test |
| Hereditary spastic paraplegia 7 | 2 tests |
| Hereditary spastic paraplegia 72 | 1 test |
| Hereditary spastic paraplegia 73 | 1 test |
| Hereditary spastic paraplegia 74 | 1 test |
| Hereditary spastic paraplegia 75 | 1 test |
| Hereditary spastic paraplegia 77 | 1 test |
| Hereditary spastic paraplegia 8 | 1 test |
| Hereditary spastic paraplegia 9A | 1 test |
| Hereditary spherocytosis type 1 | 1 test |
| Hereditary spherocytosis type 2 | 4 tests |
| Hereditary spherocytosis type 3 | 1 test |
| Hereditary spherocytosis type 4 | 1 test |
| Hereditary spherocytosis type 5 | 1 test |
| Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | 2 tests |
| Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency | 2 tests |
| Hereditary xanthinuria type 1 | 2 tests |
| Hermansky-Pudlak syndrome 1 | 2 tests |
| Hermansky-Pudlak syndrome 10 | 2 tests |
| Hermansky-Pudlak syndrome 2 | 2 tests |
| Hermansky-Pudlak syndrome 3 | 2 tests |
| Hermansky-Pudlak syndrome 4 | 2 tests |
| Hermansky-Pudlak syndrome 5 | 2 tests |
| Hermansky-Pudlak syndrome 6 | 2 tests |
| Hermansky-Pudlak syndrome 7 | 2 tests |
| Hermansky-Pudlak syndrome 8 | 2 tests |
| Hermansky-Pudlak syndrome 9 | 2 tests |
| Herpes simplex encephalitis, susceptibility to, 1 | 2 tests |
| Herpes simplex encephalitis, susceptibility to, 3 | 2 tests |
| Herpes simplex encephalitis, susceptibility to, 4 | 2 tests |
| Heterotaxy, visceral, 1, X-linked | 8 tests |
| Heterotaxy, visceral, 2, autosomal | 2 tests |
| Heterotaxy, visceral, 4, autosomal | 4 tests |
| Heterotaxy, visceral, 5, autosomal | 4 tests |
| Heterotaxy, visceral, 6, autosomal | 2 tests |
| Heterotaxy, visceral, 7, autosomal | 2 tests |
| Heterotaxy, visceral, 8, autosomal | 2 tests |
| Heterotopia, periventricular, X-linked dominant | 6 tests |
| Hidrotic ectodermal dysplasia syndrome | 3 tests |
| High density lipoprotein cholesterol level quantitative trait locus 12 | 1 test |
| High density lipoprotein cholesterol level quantitative trait locus 6 | 1 test |
| High molecular weight kininogen deficiency | 2 tests |
| High myopia-sensorineural deafness syndrome | 1 test |
| Hip dysplasia, Beukes type | 1 test |
| Hirschsprung disease, cardiac defects, and autonomic dysfunction | 2 tests |
| Hirschsprung disease, susceptibility to, 1 | 4 tests |
| Hirschsprung disease, susceptibility to, 2 | 4 tests |
| Hirschsprung disease, susceptibility to, 3 | 4 tests |
| Hirschsprung disease, susceptibility to, 4 | 4 tests |
| Histidinemia | 1 test |
| Histiocytic medullary reticulosis | 10 tests |
| Hogue-Janssens syndrome 1 | 2 tests |
| Holocarboxylase synthetase deficiency | 2 tests |
| Holoprosencephaly 11 | 2 tests |
| Holoprosencephaly 2 | 4 tests |
| Holoprosencephaly 3 | 4 tests |
| Holoprosencephaly 4 | 2 tests |
| Holoprosencephaly 5 | 4 tests |
| Holoprosencephaly 7 | 4 tests |
| Holoprosencephaly 9 | 1 test |
| Holt-Oram syndrome | 2 tests |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 6 tests |
| Homozygous 11P15-p14 deletion syndrome | 2 tests |
| Houge-Janssens syndrome 2 | 2 tests |
| Human HOXA1 syndromes | 4 tests |
| Huntington disease | 1 test |
| Huntington disease-like 1 | 1 test |
| Huntington disease-like 2 | 1 test |
| Huppke-Brendel syndrome | 2 tests |
| Hurler syndrome | 4 tests |
| Hurthle cell carcinoma of thyroid | 1 test |
| Hutchinson-Gilford syndrome | 4 tests |
| Hyaline fibromatosis syndrome | 1 test |
| Hydatidiform mole, recurrent, 1 | 1 test |
| Hydatidiform mole, recurrent, 2 | 1 test |
| Hydrocephalus, nonsyndromic, autosomal recessive 1 | 2 tests |
| Hydrocephalus, nonsyndromic, autosomal recessive 2 | 2 tests |
| Hydrolethalus syndrome 1 | 2 tests |
| Hydrolethalus syndrome 2 | 2 tests |
| Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome | 2 tests |
| Hydroxyacyl glutathione hydrolase deficiency | 1 test |
| Hydroxykynureninuria | 2 tests |
| Hyper-IgE recurrent infection syndrome 1, autosomal dominant | 2 tests |
| Hyper-IgM syndrome type 1 | 2 tests |
| Hyper-IgM syndrome type 2 | 2 tests |
| Hyper-IgM syndrome type 3 | 2 tests |
| Hyper-IgM syndrome type 5 | 2 tests |
| Hyperaldosteronism, familial, type IV | 1 test |
| Hyperalphalipoproteinemia 1 | 3 tests |
| Hyperammonemia, type III | 2 tests |
| Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | 2 tests |
| Hyperbiliverdinemia | 2 tests |
| Hypercalcemia, infantile, 1 | 2 tests |
| Hypercalcemia, infantile, 2 | 2 tests |
| Hypercholanemia, familial 1 | 3 tests |
| Hypercholesterolemia, autosomal dominant, 3 | 2 tests |
| Hypercholesterolemia, autosomal dominant, type B | 1 test |
| Hypercholesterolemia, familial, 1 | 12 tests |
| Hypercholesterolemia, familial, 4 | 1 test |
| Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency | 2 tests |
| Hyperglycinuria | 6 tests |
| Hyperimmunoglobulin D with periodic fever | 2 tests |
| Hyperinsulinemic hypoglycemia, familial, 1 | 4 tests |
| Hyperinsulinemic hypoglycemia, familial, 2 | 2 tests |
| Hyperinsulinemic hypoglycemia, familial, 4 | 2 tests |
| Hyperinsulinism due to INSR deficiency | 2 tests |
| Hyperinsulinism due to glucokinase deficiency | 4 tests |
| Hyperinsulinism-hyperammonemia syndrome | 2 tests |
| Hyperlipidemia due to hepatic triglyceride lipase deficiency | 1 test |
| Hyperlipidemia, combined, 1 | 1 test |
| Hyperlipidemia, familial combined, LPL related | 2 tests |
| Hyperlipoproteinemia, type 1D | 1 test |
| Hyperlipoproteinemia, type I | 3 tests |
| Hyperlysinemia | 2 tests |
| Hypermanganesemia with dystonia 2 | 1 test |
| Hypermanganesemia with dystonia, polycythemia, and cirrhosis | 1 test |
| Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | 2 tests |
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 2 tests |
| Hyperparathyroidism 1 | 2 tests |
| Hyperparathyroidism 2 with jaw tumors | 4 tests |
| Hyperparathyroidism 4 | 1 test |
| Hyperphenylalaninemia due to DNAJC12 deficiency | 2 tests |
| Hyperphosphatasemia tarda | 2 tests |
| Hyperphosphatasemia with bone disease | 1 test |
| Hyperphosphatasia with intellectual disability syndrome 1 | 2 tests |
| Hyperphosphatasia with intellectual disability syndrome 2 | 2 tests |
| Hyperphosphatasia with intellectual disability syndrome 3 | 2 tests |
| Hyperphosphatasia with intellectual disability syndrome 4 | 2 tests |
| Hyperphosphatasia with intellectual disability syndrome 5 | 2 tests |
| Hyperphosphatasia with intellectual disability syndrome 6 | 2 tests |
| Hyperpigmentation with or without hypopigmentation, familial progressive | 1 test |
| Hyperproinsulinemia | 1 test |
| Hyperprolinemia type 2 | 2 tests |
| Hypertension, diastolic, resistance to | 1 test |
| Hyperthyroxinemia, dystransthyretinemic | 1 test |
| Hyperthyroxinemia, familial dysalbuminemic | 1 test |
| Hypertrichotic osteochondrodysplasia Cantu type | 2 tests |
| Hypertriglyceridemia 1 | 2 tests |
| Hypertrophic cardiomyopathy 1 | 5 tests |
| Hypertrophic cardiomyopathy 10 | 1 test |
| Hypertrophic cardiomyopathy 11 | 1 test |
| Hypertrophic cardiomyopathy 12 | 1 test |
| Hypertrophic cardiomyopathy 13 | 1 test |
| Hypertrophic cardiomyopathy 14 | 1 test |
| Hypertrophic cardiomyopathy 15 | 1 test |
| Hypertrophic cardiomyopathy 16 | 1 test |
| Hypertrophic cardiomyopathy 17 | 1 test |
| Hypertrophic cardiomyopathy 18 | 1 test |
| Hypertrophic cardiomyopathy 2 | 2 tests |
| Hypertrophic cardiomyopathy 20 | 1 test |
| Hypertrophic cardiomyopathy 25 | 1 test |
| Hypertrophic cardiomyopathy 26 | 2 tests |
| Hypertrophic cardiomyopathy 3 | 1 test |
| Hypertrophic cardiomyopathy 4 | 2 tests |
| Hypertrophic cardiomyopathy 6 | 1 test |
| Hypertrophic cardiomyopathy 7 | 1 test |
| Hypertrophic cardiomyopathy 8 | 1 test |
| Hypertrophic cardiomyopathy 9 | 1 test |
| Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 | 3 tests |
| Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 | 1 test |
| Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome | 2 tests |
| Hyperuricemic nephropathy, familial juvenile type 4 | 1 test |
| Hypoalphalipoproteinemia, primary, 1 | 4 tests |
| Hypogonadotropic hypogonadism 1 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 10 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 11 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 12 with or without anosmia | 2 tests |
| Hypogonadotropic hypogonadism 13 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 14 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 15 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 16 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 17 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 18 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 19 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 2 with or without anosmia | 2 tests |
| Hypogonadotropic hypogonadism 20 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 21 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 22 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 24 without anosmia | 1 test |
| Hypogonadotropic hypogonadism 3 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 4 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 5 with or without anosmia | 2 tests |
| Hypogonadotropic hypogonadism 6 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 7 with or without anosmia | 2 tests |
| Hypogonadotropic hypogonadism 8 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 9 with or without anosmia | 1 test |
| Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | 2 tests |
| Hypohidrotic X-linked ectodermal dysplasia | 4 tests |
| Hypoinsulinemic hypoglycemia and body hemihypertrophy | 1 test |
| Hypokalemic periodic paralysis, type 1 | 2 tests |
| Hypokalemic periodic paralysis, type 2 | 2 tests |
| Hypomagnesemia, seizures, and intellectual disability 1 | 2 tests |
| Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism | 1 test |
| Hypomyelinating leukodystrophy 10 | 2 tests |
| Hypomyelinating leukodystrophy 11 | 2 tests |
| Hypomyelinating leukodystrophy 12 | 2 tests |
| Hypomyelinating leukodystrophy 13 | 2 tests |
| Hypomyelinating leukodystrophy 2 | 2 tests |
| Hypomyelinating leukodystrophy 3 | 2 tests |
| Hypomyelinating leukodystrophy 4 | 2 tests |
| Hypomyelinating leukodystrophy 6 | 2 tests |
| Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | 2 tests |
| Hypomyelinating leukodystrophy 9 | 2 tests |
| Hypomyelination with brain stem and spinal cord involvement and leg spasticity | 2 tests |
| Hypoparathyroidism, deafness, renal disease syndrome | 4 tests |
| Hypoparathyroidism-retardation-dysmorphism syndrome | 2 tests |
| Hypophosphatemic nephrolithiasis/osteoporosis 1 | 1 test |
| Hypophosphatemic nephrolithiasis/osteoporosis 2 | 1 test |
| Hypophosphatemic rickets, X-linked recessive | 1 test |
| Hypophosphatemic rickets, autosomal recessive, 1 | 1 test |
| Hypophosphatemic rickets, autosomal recessive, 2 | 1 test |
| Hypopigmentation-punctate palmoplantar keratoderma syndrome | 1 test |
| Hypoplastic enamel-onycholysis-hypohidrosis syndrome | 2 tests |
| Hypoplastic left heart syndrome 1 | 2 tests |
| Hypoplastic left heart syndrome 2 | 4 tests |
| Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome | 2 tests |
| Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | 4 tests |
| Hypoproteinemia, hypercatabolic | 2 tests |
| Hypospadias 1, X-linked | 4 tests |
| Hypospadias 2, X-linked | 2 tests |
| Hypothalamic hypothyroidism | 1 test |
| Hypothyroidism due to TSH receptor mutations | 2 tests |
| Hypothyroidism, congenital, nongoitrous, 2 | 2 tests |
| Hypothyroidism, congenital, nongoitrous, 5 | 2 tests |
| Hypotonia with lactic acidemia and hyperammonemia | 2 tests |
| Hypotonia, ataxia, and delayed development syndrome | 2 tests |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 2 tests |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 2 tests |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 2 tests |
| Hypotonia-cystinuria syndrome | 2 tests |
| Hypotonia-failure to thrive-microcephaly syndrome | 2 tests |
| Hypotrichosis 1 | 1 test |
| Hypotrichosis 11 | 1 test |
| Hypotrichosis 12 | 1 test |
| Hypotrichosis 13 | 1 test |
| Hypotrichosis 2 | 1 test |
| Hypotrichosis 3 | 1 test |
| Hypotrichosis 4 | 1 test |
| Hypotrichosis 6 | 1 test |
| Hypotrichosis 7 | 2 tests |
| Hypotrichosis 8 | 2 tests |
| Hypotrichosis-lymphedema-telangiectasia syndrome | 1 test |
| Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | 2 tests |
| Hypouricemia, renal, 2 | 2 tests |
| IFAP syndrome 1, with or without BRESHECK syndrome | 1 test |
| IL21-related infantile inflammatory bowel disease | 2 tests |
| IMAGe syndrome | 4 tests |
| Ichthyosis bullosa of Siemens | 1 test |
| Ichthyosis hystrix of Curth-Macklin | 1 test |
| Ichthyosis prematurity syndrome | 1 test |
| Ichthyosis vulgaris | 2 tests |
| Ichthyosis, congenital, autosomal recessive 12 | 2 tests |
| Ichthyosis, hystrix-like, with hearing loss | 1 test |
| Idiopathic CD4 lymphocytopenia | 3 tests |
| Idiopathic basal ganglia calcification 1 | 2 tests |
| Idiopathic hypereosinophilic syndrome | 1 test |
| IgA nephropathy, susceptibility to, 3 | 1 test |
| IgE responsiveness, atopic | 8 tests |
| Imerslund-Grasbeck syndrome | 4 tests |
| Iminoglycinuria | 6 tests |
| Immunodeficiency 104 | 4 tests |
| Immunodeficiency 14 | 2 tests |
| Immunodeficiency 18 | 2 tests |
| Immunodeficiency 19 | 2 tests |
| Immunodeficiency 23 | 2 tests |
| Immunodeficiency 25 | 2 tests |
| Immunodeficiency 27A | 2 tests |
| Immunodeficiency 28 | 2 tests |
| Immunodeficiency 31B | 2 tests |
| Immunodeficiency 33 | 10 tests |
| Immunodeficiency 35 | 2 tests |
| Immunodeficiency 36 | 2 tests |
| Immunodeficiency 37 | 3 tests |
| Immunodeficiency 39 | 2 tests |
| Immunodeficiency 45 | 2 tests |
| Immunodeficiency 47 | 2 tests |
| Immunodeficiency 49 | 2 tests |
| Immunodeficiency 51 | 2 tests |
| Immunodeficiency 67 | 2 tests |
| Immunodeficiency 83, susceptibility to viral infections | 2 tests |
| Immunodeficiency due to CD25 deficiency | 2 tests |
| Immunodeficiency due to MASP-2 deficiency | 2 tests |
| Immunodeficiency due to ficolin3 deficiency | 2 tests |
| Immunodeficiency, common variable, 1 | 2 tests |
| Immunodeficiency, common variable, 10 | 2 tests |
| Immunodeficiency, common variable, 12 | 2 tests |
| Immunodeficiency, common variable, 2 | 2 tests |
| Immunodeficiency, common variable, 3 | 2 tests |
| Immunodeficiency, common variable, 4 | 2 tests |
| Immunodeficiency, common variable, 5 | 2 tests |
| Immunodeficiency, common variable, 6 | 2 tests |
| Immunodeficiency, common variable, 7 | 2 tests |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | 4 tests |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | 2 tests |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 3 | 2 tests |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 4 | 2 tests |
| Immunoglobulin A deficiency 2 | 2 tests |
| Immunoglobulin-mediated membranoproliferative glomerulonephritis | 4 tests |
| Inborn glycerol kinase deficiency | 3 tests |
| Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | 1 test |
| Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | 1 test |
| Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 | 1 test |
| Incontinentia pigmenti syndrome | 2 tests |
| Increased analgesia from kappa-opioid receptor agonist, female-specific | 1 test |
| Infantile GM1 gangliosidosis | 2 tests |
| Infantile bilateral striatal necrosis | 2 tests |
| Infantile cerebellar-retinal degeneration | 2 tests |
| Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | 2 tests |
| Infantile convulsions and choreoathetosis | 1 test |
| Infantile cortical hyperostosis | 2 tests |
| Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency | 2 tests |
| Infantile hypophosphatasia | 2 tests |
| Infantile liver failure syndrome 1 | 2 tests |
| Infantile liver failure syndrome 2 | 2 tests |
| Infantile nephronophthisis | 2 tests |
| Infantile neuroaxonal dystrophy | 4 tests |
| Infantile onset spinocerebellar ataxia | 4 tests |
| Infantile-onset X-linked spinal muscular atrophy | 2 tests |
| Infantile-onset ascending hereditary spastic paralysis | 1 test |
| Infantile-onset generalized dyskinesia with orofacial involvement | 1 test |
| Infantile-onset periodic fever-panniculitis-dermatosis syndrome | 1 test |
| Infertility associated with multi-tailed spermatozoa and excessive DNA | 1 test |
| Inflammatory bowel disease 1 | 2 tests |
| Inflammatory bowel disease 10 | 1 test |
| Inflammatory bowel disease 13 | 1 test |
| Inflammatory bowel disease 14 | 1 test |
| Inflammatory bowel disease 17 | 1 test |
| Inflammatory bowel disease 19 | 1 test |
| Inflammatory bowel disease 25 | 1 test |
| Inflammatory bowel disease 28 | 1 test |
| Inflammatory skin and bowel disease, neonatal, 1 | 1 test |
| Inflammatory skin and bowel disease, neonatal, 2 | 1 test |
| Influenza, severe, susceptibility to | 1 test |
| Inherited Creutzfeldt-Jakob disease | 4 tests |
| Inherited glutathione synthetase deficiency | 3 tests |
| Inherited susceptibility to asthma | 14 tests |
| Inosine triphosphatase deficiency | 1 test |
| Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 2 tests |
| Insulin-resistant diabetes mellitus AND acanthosis nigricans | 1 test |
| Intellectual developmental disorder with autism and macrocephaly | 2 tests |
| Intellectual developmental disorder with dysmorphic facies and ptosis | 2 tests |
| Intellectual developmental disorder, autosomal recessive 74 | 2 tests |
| Intellectual disability, FRA12A type | 2 tests |
| Intellectual disability, X-linked 1 | 2 tests |
| Intellectual disability, X-linked 100 | 2 tests |
| Intellectual disability, X-linked 101 | 2 tests |
| Intellectual disability, X-linked 102 | 2 tests |
| Intellectual disability, X-linked 103 | 2 tests |
| Intellectual disability, X-linked 104 | 2 tests |
| Intellectual disability, X-linked 105 | 2 tests |
| Intellectual disability, X-linked 19 | 6 tests |
| Intellectual disability, X-linked 21 | 2 tests |
| Intellectual disability, X-linked 30 | 2 tests |
| Intellectual disability, X-linked 41 | 2 tests |
| Intellectual disability, X-linked 46 | 2 tests |
| Intellectual disability, X-linked 49 | 3 tests |
| Intellectual disability, X-linked 58 | 2 tests |
| Intellectual disability, X-linked 61 | 2 tests |
| Intellectual disability, X-linked 63 | 2 tests |
| Intellectual disability, X-linked 72 | 2 tests |
| Intellectual disability, X-linked 9 | 2 tests |
| Intellectual disability, X-linked 90 | 2 tests |
| Intellectual disability, X-linked 91 | 2 tests |
| Intellectual disability, X-linked 93 | 2 tests |
| Intellectual disability, X-linked 96 | 2 tests |
| Intellectual disability, X-linked 97 | 2 tests |
| Intellectual disability, X-linked 99 | 2 tests |
| Intellectual disability, X-linked 99, syndromic, female-restricted | 2 tests |
| Intellectual disability, X-linked, syndromic 33 | 2 tests |
| Intellectual disability, X-linked, syndromic, Bain type | 2 tests |
| Intellectual disability, X-linked, with or without seizures, arx-related | 4 tests |
| Intellectual disability, X-linked, with panhypopituitarism | 2 tests |
| Intellectual disability, anterior maxillary protrusion, and strabismus | 2 tests |
| Intellectual disability, autosomal dominant 1 | 2 tests |
| Intellectual disability, autosomal dominant 10 | 2 tests |
| Intellectual disability, autosomal dominant 11 | 2 tests |
| Intellectual disability, autosomal dominant 13 | 2 tests |
| Intellectual disability, autosomal dominant 14 | 4 tests |
| Intellectual disability, autosomal dominant 15 | 2 tests |
| Intellectual disability, autosomal dominant 16 | 2 tests |
| Intellectual disability, autosomal dominant 20 | 9 tests |
| Intellectual disability, autosomal dominant 22 | 2 tests |
| Intellectual disability, autosomal dominant 24 | 2 tests |
| Intellectual disability, autosomal dominant 27 | 2 tests |
| Intellectual disability, autosomal dominant 29 | 2 tests |
| Intellectual disability, autosomal dominant 3 | 2 tests |
| Intellectual disability, autosomal dominant 30 | 2 tests |
| Intellectual disability, autosomal dominant 33 | 2 tests |
| Intellectual disability, autosomal dominant 34 | 2 tests |
| Intellectual disability, autosomal dominant 38 | 2 tests |
| Intellectual disability, autosomal dominant 39 | 2 tests |
| Intellectual disability, autosomal dominant 4 | 2 tests |
| Intellectual disability, autosomal dominant 40 | 2 tests |
| Intellectual disability, autosomal dominant 41 | 2 tests |
| Intellectual disability, autosomal dominant 42 | 2 tests |
| Intellectual disability, autosomal dominant 43 | 2 tests |
| Intellectual disability, autosomal dominant 5 | 2 tests |
| Intellectual disability, autosomal dominant 6 | 4 tests |
| Intellectual disability, autosomal dominant 8 | 2 tests |
| Intellectual disability, autosomal dominant 9 | 2 tests |
| Intellectual disability, autosomal recessive 1 | 2 tests |
| Intellectual disability, autosomal recessive 12 | 2 tests |
| Intellectual disability, autosomal recessive 13 | 2 tests |
| Intellectual disability, autosomal recessive 14 | 2 tests |
| Intellectual disability, autosomal recessive 18 | 2 tests |
| Intellectual disability, autosomal recessive 2 | 2 tests |
| Intellectual disability, autosomal recessive 27 | 2 tests |
| Intellectual disability, autosomal recessive 3 | 2 tests |
| Intellectual disability, autosomal recessive 34 | 2 tests |
| Intellectual disability, autosomal recessive 42 | 2 tests |
| Intellectual disability, autosomal recessive 43 | 2 tests |
| Intellectual disability, autosomal recessive 44 | 2 tests |
| Intellectual disability, autosomal recessive 45 | 2 tests |
| Intellectual disability, autosomal recessive 46 | 2 tests |
| Intellectual disability, autosomal recessive 47 | 2 tests |
| Intellectual disability, autosomal recessive 5 | 2 tests |
| Intellectual disability, autosomal recessive 50 | 2 tests |
| Intellectual disability, autosomal recessive 51 | 1 test |
| Intellectual disability, autosomal recessive 52 | 2 tests |
| Intellectual disability, autosomal recessive 53 | 2 tests |
| Intellectual disability, autosomal recessive 54 | 2 tests |
| Intellectual disability, autosomal recessive 56 | 2 tests |
| Intellectual disability, autosomal recessive 57 | 2 tests |
| Intellectual disability, autosomal recessive 58 | 2 tests |
| Intellectual disability, autosomal recessive 59 | 2 tests |
| Intellectual disability, autosomal recessive 6 | 2 tests |
| Intellectual disability, autosomal recessive 7 | 2 tests |
| Intellectual disability-epilepsy-extrapyramidal syndrome | 2 tests |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 2 tests |
| Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome | 2 tests |
| Intellectual disability-hypotonia-spasticity-sleep disorder syndrome | 2 tests |
| Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 4 tests |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 2 tests |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 2 tests |
| Intellectual disability-strabismus syndrome | 2 tests |
| Interleukin 6, serum level of, quantitative trait locus | 1 test |
| Interstitial lung disease 2 | 3 tests |
| Interstitial lung disease due to ABCA3 deficiency | 2 tests |
| Intervertebral disc disorder | 3 tests |
| Intestinal hypomagnesemia 1 | 1 test |
| Intestinal pseudo-obstruction | 2 tests |
| Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked | 6 tests |
| Invasive pneumococcal disease, recurrent isolated | 3 tests |
| Iodotyrosine deiodination defect | 1 test |
| Iodotyrosyl coupling defect | 1 test |
| Irido-corneo-trabecular dysgenesis | 4 tests |
| Ischemic stroke | 6 tests |
| Isolated cleft palate | 2 tests |
| Isolated congenital digital clubbing | 1 test |
| Isolated focal non-epidermolytic palmoplantar keratoderma | 1 test |
| Isolated growth hormone deficiency type IB | 4 tests |
| Isolated hyperchlorhidrosis | 1 test |
| Isolated lutropin deficiency | 1 test |
| Isolated microphthalmia 2 | 1 test |
| Isolated microphthalmia 3 | 1 test |
| Isolated microphthalmia 4 | 1 test |
| Isolated microphthalmia 5 | 1 test |
| Isolated microphthalmia 6 | 1 test |
| Isolated microphthalmia 7 | 1 test |
| Isolated microphthalmia 8 | 1 test |
| Isolated optic nerve hypoplasia | 2 tests |
| Isolated thyroid-stimulating hormone deficiency | 1 test |
| Isovaleryl-CoA dehydrogenase deficiency | 2 tests |
| Jackson-Weiss syndrome | 6 tests |
| Jalili syndrome | 2 tests |
| Jawad syndrome | 3 tests |
| Jervell and Lange-Nielsen syndrome 1 | 1 test |
| Jervell and Lange-Nielsen syndrome 2 | 1 test |
| Johanson-Blizzard syndrome | 2 tests |
| Joubert syndrome 1 | 2 tests |
| Joubert syndrome 10 | 2 tests |
| Joubert syndrome 13 | 2 tests |
| Joubert syndrome 14 | 2 tests |
| Joubert syndrome 15 | 2 tests |
| Joubert syndrome 16 | 2 tests |
| Joubert syndrome 17 | 2 tests |
| Joubert syndrome 18 | 2 tests |
| Joubert syndrome 2 | 2 tests |
| Joubert syndrome 20 | 2 tests |
| Joubert syndrome 21 | 2 tests |
| Joubert syndrome 22 | 2 tests |
| Joubert syndrome 23 | 2 tests |
| Joubert syndrome 24 | 2 tests |
| Joubert syndrome 25 | 2 tests |
| Joubert syndrome 26 | 2 tests |
| Joubert syndrome 27 | 2 tests |
| Joubert syndrome 28 | 2 tests |
| Joubert syndrome 3 | 2 tests |
| Joubert syndrome 5 | 4 tests |
| Joubert syndrome 6 | 2 tests |
| Joubert syndrome 7 | 2 tests |
| Joubert syndrome 8 | 2 tests |
| Joubert syndrome 9 | 2 tests |
| Joubert syndrome with renal defect | 4 tests |
| Junctional epidermolysis bullosa gravis of Herlitz | 12 tests |
| Junctional epidermolysis bullosa with pyloric atresia | 3 tests |
| Junctional epidermolysis bullosa, non-Herlitz type | 18 tests |
| Juvenile cataract-microcornea-renal glucosuria syndrome | 1 test |
| Juvenile myelomonocytic leukemia | 6 tests |
| Juvenile myoclonic epilepsy | 2 tests |
| Juvenile nephropathic cystinosis | 4 tests |
| Juvenile onset Parkinson disease 19A | 2 tests |
| Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 2 tests |
| Juvenile primary lateral sclerosis | 1 test |
| Juvenile retinoschisis | 1 test |
| Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome | 1 test |
| KBG syndrome | 2 tests |
| KNOPS BLOOD GROUP SYSTEM | 3 tests |
| Kabuki syndrome 1 | 4 tests |
| Kabuki syndrome 2 | 4 tests |
| Kahrizi syndrome | 2 tests |
| Kallikrein, decreased urinary activity of | 1 test |
| Kaposi sarcoma | 1 test |
| Kartagener syndrome | 2 tests |
| Karyomegalic interstitial nephritis | 1 test |
| Kennedy disease | 1 test |
| Keppen-Lubinsky syndrome | 2 tests |
| Keratoconus 1 | 1 test |
| Keratosis follicularis | 2 tests |
| Keratosis follicularis spinulosa decalvans, X-linked | 2 tests |
| Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome | 1 test |
| Keratosis palmoplantaris striata 2 | 2 tests |
| Keratosis palmoplantaris striata 3 | 1 test |
| Ketoacidosis due to monocarboxylate transporter-1 deficiency | 2 tests |
| Keutel syndrome | 2 tests |
| Kindler syndrome | 1 test |
| Kleefstra syndrome 1 | 2 tests |
| Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | 2 tests |
| Klippel-Feil syndrome 1, autosomal dominant | 2 tests |
| Klippel-Feil syndrome 2, autosomal recessive | 2 tests |
| Klippel-Feil syndrome 3, autosomal dominant | 2 tests |
| Kniest dysplasia | 4 tests |
| Knobloch syndrome | 2 tests |
| Knuckle pads, deafness AND leukonychia syndrome | 2 tests |
| Koolen-de Vries syndrome | 2 tests |
| Kostmann syndrome | 2 tests |
| Krabbe disease due to saposin A deficiency | 2 tests |
| Kufor-Rakeb syndrome | 1 test |
| Kugelberg-Welander disease | 8 tests |
| Kuru, susceptibility to | 1 test |
| L-2-hydroxyglutaric aciduria | 4 tests |
| L-ferritin deficiency | 1 test |
| LAMB2-related infantile-onset nephrotic syndrome | 2 tests |
| LCAT deficiency | 2 tests |
| LEOPARD syndrome 1 | 2 tests |
| LEOPARD syndrome 2 | 2 tests |
| LEOPARD syndrome 3 | 2 tests |
| LIPE-related familial partial lipodystrophy | 1 test |
| Lafora disease | 8 tests |
| Lamb-Shaffer syndrome | 2 tests |
| Landau-Kleffner syndrome | 4 tests |
| Langer mesomelic dysplasia syndrome | 4 tests |
| Langer-Giedion syndrome | 2 tests |
| Large congenital melanocytic nevus | 2 tests |
| Laron-type isolated somatotropin defect | 3 tests |
| Larsen syndrome | 4 tests |
| Larsen-like syndrome, B3GAT3 type | 2 tests |
| Laryngo-onycho-cutaneous syndrome | 4 tests |
| Late-onset retinal degeneration | 1 test |
| Lateral meningocele syndrome | 4 tests |
| Lathosterolosis | 2 tests |
| Lattice corneal dystrophy Type I | 1 test |
| Laurence-Moon syndrome | 2 tests |
| Laurin-Sandrow syndrome | 2 tests |
| Leber congenital amaurosis 1 | 2 tests |
| Leber congenital amaurosis 10 | 2 tests |
| Leber congenital amaurosis 11 | 2 tests |
| Leber congenital amaurosis 12 | 1 test |
| Leber congenital amaurosis 13 | 2 tests |
| Leber congenital amaurosis 14 | 3 tests |
| Leber congenital amaurosis 15 | 1 test |
| Leber congenital amaurosis 16 | 1 test |
| Leber congenital amaurosis 17 | 1 test |
| Leber congenital amaurosis 2 | 2 tests |
| Leber congenital amaurosis 3 | 2 tests |
| Leber congenital amaurosis 4 | 6 tests |
| Leber congenital amaurosis 5 | 1 test |
| Leber congenital amaurosis 6 | 2 tests |
| Leber congenital amaurosis 7 | 2 tests |
| Leber congenital amaurosis 8 | 2 tests |
| Leber congenital amaurosis 9 | 1 test |
| Left ventricular noncompaction 1 | 1 test |
| Left ventricular noncompaction 10 | 4 tests |
| Left ventricular noncompaction 7 | 1 test |
| Left ventricular noncompaction 8 | 2 tests |
| Legg-Calve-Perthes disease | 2 tests |
| Legionnaire disease, susceptibility to | 1 test |
| Legius syndrome | 2 tests |
| Leigh syndrome | 36 tests |
| Lenz-Majewski hyperostosis syndrome | 2 tests |
| Leprechaunism syndrome | 2 tests |
| Leprosy, susceptibility to, 2 | 1 test |
| Leprosy, susceptibility to, 3 | 1 test |
| Leprosy, susceptibility to, 4 | 1 test |
| Leprosy, susceptibility to, 5 | 2 tests |
| Leri-Weill dyschondrosteosis | 2 tests |
| Lesch-Nyhan syndrome | 4 tests |
| Lethal Kniest-like syndrome | 2 tests |
| Lethal acantholytic epidermolysis bullosa | 4 tests |
| Lethal arthrogryposis-anterior horn cell disease syndrome | 2 tests |
| Lethal congenital contracture syndrome 1 | 2 tests |
| Lethal congenital contracture syndrome 11 | 2 tests |
| Lethal congenital contracture syndrome 2 | 2 tests |
| Lethal congenital contracture syndrome 3 | 2 tests |
| Lethal congenital contracture syndrome 4 | 2 tests |
| Lethal congenital contracture syndrome 6 | 2 tests |
| Lethal congenital contracture syndrome 7 | 2 tests |
| Lethal congenital contracture syndrome 8 | 2 tests |
| Lethal congenital contracture syndrome 9 | 2 tests |
| Lethal congenital glycogen storage disease of heart | 2 tests |
| Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome | 2 tests |
| Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | 2 tests |
| Lethal multiple pterygium syndrome | 6 tests |
| Lethal occipital encephalocele-skeletal dysplasia syndrome | 2 tests |
| Lethal osteosclerotic bone dysplasia | 2 tests |
| Lethal polymalformative syndrome, Boissel type | 2 tests |
| Lethal tight skin contracture syndrome | 4 tests |
| Leucine-induced hypoglycemia | 2 tests |
| Leukemia, acute lymphoblastic, susceptibility to, 3 | 1 test |
| Leukocyte adhesion deficiency 1 | 2 tests |
| Leukocyte adhesion deficiency 3 | 2 tests |
| Leukocyte adhesion deficiency type II | 2 tests |
| Leukodystrophy and acquired microcephaly with or without dystonia; | 2 tests |
| Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | 2 tests |
| Leukoencephalopathy with mild cerebellar ataxia and white matter edema | 2 tests |
| Leukoencephalopathy, progressive, with ovarian failure | 2 tests |
| Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | 2 tests |
| Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome | 2 tests |
| Leukonychia totalis | 1 test |
| Levy-Hollister syndrome | 10 tests |
| Lewy body dementia | 7 tests |
| Leydig cell agenesis | 2 tests |
| Li-Fraumeni syndrome 1 | 3 tests |
| Li-Fraumeni syndrome 2 | 4 tests |
| Lichtenstein-Knorr syndrome | 1 test |
| Liddle syndrome 1 | 4 tests |
| Limb-girdle muscular dystrophy due to POMK deficiency | 2 tests |
| Limb-mammary syndrome | 2 tests |
| Linear nevus sebaceous syndrome | 5 tests |
| Linear skin defects with multiple congenital anomalies 1 | 2 tests |
| Linear skin defects with multiple congenital anomalies 3 | 3 tests |
| Lipase deficiency, combined | 1 test |
| Lipid proteinosis | 2 tests |
| Lipoic acid synthetase deficiency | 2 tests |
| Lipoprotein glomerulopathy | 1 test |
| Lipoyl transferase 1 deficiency | 2 tests |
| Lissencephaly 4 | 2 tests |
| Lissencephaly 6 with microcephaly | 2 tests |
| Lissencephaly 7 with cerebellar hypoplasia | 2 tests |
| Lissencephaly 8 | 2 tests |
| Lissencephaly due to LIS1 mutation | 4 tests |
| Lissencephaly due to TUBA1A mutation | 2 tests |
| Lissencephaly type 1 due to doublecortin gene mutation | 8 tests |
| Loeys-Dietz syndrome 1 | 4 tests |
| Loeys-Dietz syndrome 2 | 2 tests |
| Loeys-Dietz syndrome 4 | 2 tests |
| Long QT syndrome 1 | 2 tests |
| Long QT syndrome 10 | 2 tests |
| Long QT syndrome 11 | 1 test |
| Long QT syndrome 12 | 1 test |
| Long QT syndrome 13 | 1 test |
| Long QT syndrome 14 | 1 test |
| Long QT syndrome 15 | 1 test |
| Long QT syndrome 2 | 5 tests |
| Long QT syndrome 3 | 2 tests |
| Long QT syndrome 5 | 1 test |
| Long QT syndrome 6 | 1 test |
| Long QT syndrome 9 | 2 tests |
| Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 5 tests |
| Loricrin keratoderma | 2 tests |
| Low density lipoprotein cholesterol level quantitative trait locus 6 | 1 test |
| Low phospholipid associated cholelithiasis | 2 tests |
| Lowe syndrome | 2 tests |
| Lower motor neuron syndrome with late-adult onset | 2 tests |
| Lucey-Driscoll syndrome | 1 test |
| Lung carcinoma | 18 tests |
| Lung disease, immunodeficiency, and chromosome breakage syndrome; | 2 tests |
| Luscan-Lumish syndrome | 2 tests |
| Lymphangiomyomatosis | 3 tests |
| Lymphatic malformation 3 | 2 tests |
| Lymphatic malformation 4 | 2 tests |
| Lymphatic malformation 6 | 2 tests |
| Lymphatic malformation 7 | 2 tests |
| Lymphedema-posterior choanal atresia syndrome | 2 tests |
| Lymphoproliferative syndrome 1 | 2 tests |
| Lymphoproliferative syndrome 2 | 2 tests |
| Lynch syndrome 1 | 1 test |
| Lynch syndrome 4 | 1 test |
| Lynch syndrome 5 | 1 test |
| Lynch syndrome 8 | 1 test |
| Lysinuric protein intolerance | 2 tests |
| Lysosomal acid lipase deficiency | 4 tests |
| MASA syndrome | 4 tests |
| MASS syndrome | 2 tests |
| MEDNIK syndrome | 2 tests |
| MEGF10-related myopathy | 2 tests |
| MEGF8-related Carpenter syndrome | 2 tests |
| MEND syndrome | 2 tests |
| MGAT2-congenital disorder of glycosylation | 2 tests |
| MHC class I deficiency | 8 tests |
| MHC class II deficiency | 8 tests |
| MIRAGE syndrome | 2 tests |
| MOGS-congenital disorder of glycosylation | 2 tests |
| MORM syndrome | 2 tests |
| MPDU1-congenital disorder of glycosylation | 2 tests |
| MPI-congenital disorder of glycosylation | 2 tests |
| MYH7-related skeletal myopathy | 4 tests |
| MYPN-related myopathy | 2 tests |
| Macrocephaly, dysmorphic facies, and psychomotor retardation | 2 tests |
| Macrocephaly-autism syndrome | 4 tests |
| Macrocephaly-developmental delay syndrome | 2 tests |
| Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 2 tests |
| Macrocephaly/megalencephaly syndrome, autosomal recessive | 2 tests |
| Macroglobulinemia, Waldenstrom, 1 | 1 test |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 2 tests |
| Macrothrombocytopenia, isolated, 1, autosomal dominant | 1 test |
| Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | 2 tests |
| Macular corneal dystrophy | 1 test |
| Macular degeneration, X-linked atrophic | 2 tests |
| Macular degeneration, age-related, 3 | 2 tests |
| Macular degeneration, early-onset | 1 test |
| Macular dystrophy with central cone involvement | 1 test |
| Majeed syndrome | 2 tests |
| Major affective disorder 7 | 1 test |
| Major depressive disorder | 5 tests |
| Malan overgrowth syndrome | 2 tests |
| Malaria, mild, susceptibility to | 1 test |
| Malaria, susceptibility to | 15 tests |
| Malignant hyperthermia, susceptibility to, 1 | 6 tests |
| Malignant hyperthermia, susceptibility to, 5 | 2 tests |
| Malignant tumor of esophagus | 6 tests |
| Malignant tumor of prostate | 16 tests |
| Malignant tumor of testis | 3 tests |
| Malignant tumor of urinary bladder | 4 tests |
| Mandibular hypoplasia-deafness-progeroid syndrome | 1 test |
| Mandibuloacral dysplasia with type A lipodystrophy | 2 tests |
| Mandibuloacral dysplasia with type B lipodystrophy | 4 tests |
| Mandibulofacial dysostosis with alopecia | 2 tests |
| Mandibulofacial dysostosis-microcephaly syndrome | 2 tests |
| Mannose-binding lectin deficiency | 2 tests |
| Maple syrup urine disease | 6 tests |
| Maple syrup urine disease, mild variant | 2 tests |
| Marden-Walker syndrome | 2 tests |
| Marfan syndrome | 2 tests |
| Marinesco-Sjögren syndrome | 2 tests |
| Marshall syndrome | 4 tests |
| Marshall-Smith syndrome | 2 tests |
| Martsolf syndrome | 2 tests |
| Mast syndrome | 1 test |
| Mastocytosis | 1 test |
| Maternal riboflavin deficiency | 2 tests |
| Matthew-Wood syndrome | 2 tests |
| Maturity-onset diabetes of the young type 1 | 2 tests |
| Maturity-onset diabetes of the young type 10 | 1 test |
| Maturity-onset diabetes of the young type 11 | 1 test |
| Maturity-onset diabetes of the young type 13 | 1 test |
| Maturity-onset diabetes of the young type 14 | 1 test |
| Maturity-onset diabetes of the young type 2 | 2 tests |
| Maturity-onset diabetes of the young type 3 | 2 tests |
| Maturity-onset diabetes of the young type 4 | 1 test |
| Maturity-onset diabetes of the young type 6 | 1 test |
| Maturity-onset diabetes of the young type 7 | 1 test |
| Maturity-onset diabetes of the young type 8 | 1 test |
| Maturity-onset diabetes of the young type 9 | 1 test |
| McCune-Albright syndrome | 1 test |
| McKusick-Kaufman syndrome | 2 tests |
| McLeod neuroacanthocytosis syndrome | 2 tests |
| Meacham syndrome | 4 tests |
| Meckel syndrome, type 1 | 2 tests |
| Meckel syndrome, type 10 | 2 tests |
| Meckel syndrome, type 11 | 2 tests |
| Meckel syndrome, type 2 | 2 tests |
| Meckel syndrome, type 3 | 2 tests |
| Meckel syndrome, type 4 | 4 tests |
| Meckel syndrome, type 5 | 2 tests |
| Meckel syndrome, type 6 | 2 tests |
| Meckel syndrome, type 8 | 2 tests |
| Meckel syndrome, type 9 | 2 tests |
| Meconium ileus | 2 tests |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 4 tests |
| Medulloblastoma | 5 tests |
| Meester-Loeys syndrome | 2 tests |
| Megaconial type congenital muscular dystrophy | 2 tests |
| Megalencephalic leukoencephalopathy with subcortical cysts 1 | 4 tests |
| Megalencephalic leukoencephalopathy with subcortical cysts 2A | 2 tests |
| Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability | 2 tests |
| Megalencephaly-capillary malformation-polymicrogyria syndrome | 2 tests |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 2 tests |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | 2 tests |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | 2 tests |
| Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 2 tests |
| Meier-Gorlin syndrome 1 | 2 tests |
| Meier-Gorlin syndrome 2 | 2 tests |
| Meier-Gorlin syndrome 3 | 2 tests |
| Meier-Gorlin syndrome 4 | 2 tests |
| Meier-Gorlin syndrome 5 | 2 tests |
| Meier-Gorlin syndrome 6 | 2 tests |
| Meier-Gorlin syndrome 7 | 2 tests |
| Melanoma and neural system tumor syndrome | 4 tests |
| Melanoma, cutaneous malignant, susceptibility to, 1 | 1 test |
| Melanoma, cutaneous malignant, susceptibility to, 2 | 2 tests |
| Melanoma, cutaneous malignant, susceptibility to, 3 | 2 tests |
| Melanoma, cutaneous malignant, susceptibility to, 5 | 1 test |
| Melanoma, cutaneous malignant, susceptibility to, 6 | 1 test |
| Melanoma, cutaneous malignant, susceptibility to, 8 | 2 tests |
| Melanoma, cutaneous malignant, susceptibility to, 9 | 2 tests |
| Melanoma-pancreatic cancer syndrome | 2 tests |
| Melioidosis, susceptibility to | 2 tests |
| Melnick-Needles syndrome | 4 tests |
| Melorheostosis | 2 tests |
| Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency | 2 tests |
| Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency | 2 tests |
| Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency | 2 tests |
| Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency | 3 tests |
| Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | 2 tests |
| Menkes kinky-hair syndrome | 4 tests |
| Menstrual cycle-dependent periodic fever | 1 test |
| Merosin deficient congenital muscular dystrophy | 4 tests |
| Mesoaxial synostotic syndactyly with phalangeal reduction | 1 test |
| Mesothelioma, malignant | 2 tests |
| Metabolic myopathy due to lactate transporter defect | 1 test |
| Metabolic syndrome X | 1 test |
| Metachondromatosis | 2 tests |
| Metachromatic leukodystrophy | 2 tests |
| Metaphyseal anadysplasia 2 | 2 tests |
| Metaphyseal chondrodysplasia, Jansen type | 2 tests |
| Metaphyseal chondrodysplasia, McKusick type | 2 tests |
| Metaphyseal chondrodysplasia, Schmid type | 3 tests |
| Metaphyseal chondrodysplasia, Spahr type | 2 tests |
| Metaphyseal dysplasia without hypotrichosis | 2 tests |
| Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome | 4 tests |
| Metatropic dysplasia | 2 tests |
| Methemoglobinemia type 4 | 2 tests |
| Methylcobalamin deficiency type cblE | 2 tests |
| Methylcobalamin deficiency type cblG | 2 tests |
| Methylmalonate semialdehyde dehydrogenase deficiency | 2 tests |
| Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency | 2 tests |
| Methylmalonic acidemia due to transcobalamin receptor defect | 2 tests |
| Methylmalonic acidemia with homocystinuria, type cblJ | 2 tests |
| Methylmalonic acidemia with homocystinuria, type cblX | 2 tests |
| Methylmalonic aciduria and homocystinuria type cblD | 6 tests |
| Methylmalonic aciduria and homocystinuria type cblF | 2 tests |
| Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 3 tests |
| Methylmalonic aciduria, cblA type | 2 tests |
| Methylmalonic aciduria, cblB type | 2 tests |
| Mevalonic aciduria | 2 tests |
| Microcephalic osteodysplastic primordial dwarfism type II | 2 tests |
| Microcephalic primordial dwarfism due to RTTN deficiency | 2 tests |
| Microcephalic primordial dwarfism due to ZNF335 deficiency | 2 tests |
| Microcephalic primordial dwarfism, Alazami type | 2 tests |
| Microcephaly 1, primary, autosomal recessive | 4 tests |
| Microcephaly 11, primary, autosomal recessive | 2 tests |
| Microcephaly 12, primary, autosomal recessive | 2 tests |
| Microcephaly 13, primary, autosomal recessive | 2 tests |
| Microcephaly 14, primary, autosomal recessive | 2 tests |
| Microcephaly 15, primary, autosomal recessive | 2 tests |
| Microcephaly 16, primary, autosomal recessive | 2 tests |
| Microcephaly 17, primary, autosomal recessive | 2 tests |
| Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 2 tests |
| Microcephaly 3, primary, autosomal recessive | 4 tests |
| Microcephaly 4, primary, autosomal recessive | 2 tests |
| Microcephaly 5, primary, autosomal recessive | 4 tests |
| Microcephaly 6, primary, autosomal recessive | 4 tests |
| Microcephaly 7, primary, autosomal recessive | 4 tests |
| Microcephaly 8, primary, autosomal recessive | 2 tests |
| Microcephaly 9, primary, autosomal recessive | 2 tests |
| Microcephaly and chorioretinopathy 1 | 2 tests |
| Microcephaly and chorioretinopathy 2 | 2 tests |
| Microcephaly and chorioretinopathy 3 | 2 tests |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 2 tests |
| Microcephaly, epilepsy, and diabetes syndrome | 2 tests |
| Microcephaly, normal intelligence and immunodeficiency | 2 tests |
| Microcephaly, seizures, and developmental delay | 2 tests |
| Microcephaly, short stature, and impaired glucose metabolism 1 | 2 tests |
| Microcephaly, short stature, and impaired glucose metabolism 2 | 2 tests |
| Microcephaly-capillary malformation syndrome | 2 tests |
| Microcephaly-congenital cataract-psoriasiform dermatitis syndrome | 2 tests |
| Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | 2 tests |
| Microcephaly-thin corpus callosum-intellectual disability syndrome | 2 tests |
| Microcornea-myopic chorioretinal atrophy | 1 test |
| Microcytic anemia | 1 test |
| Microcytic anemia with liver iron overload | 1 test |
| Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 2 tests |
| Microphthalmia with brain and digit anomalies | 2 tests |
| Microphthalmia with limb anomalies | 2 tests |
| Microphthalmia, isolated, with coloboma 10 | 1 test |
| Microphthalmia, isolated, with coloboma 3 | 2 tests |
| Microphthalmia, isolated, with coloboma 5 | 4 tests |
| Microphthalmia, isolated, with coloboma 6 | 4 tests |
| Microphthalmia, isolated, with coloboma 7 | 1 test |
| Microphthalmia, isolated, with coloboma 9 | 1 test |
| Microphthalmia, syndromic 1 | 2 tests |
| Microphthalmia, syndromic 11 | 1 test |
| Microphthalmia, syndromic 12 | 1 test |
| Microspherophakia | 1 test |
| Microvascular complications of diabetes, susceptibility to, 1 | 1 test |
| Microvascular complications of diabetes, susceptibility to, 2 | 1 test |
| Microvascular complications of diabetes, susceptibility to, 4 | 1 test |
| Microvascular complications of diabetes, susceptibility to, 5 | 4 tests |
| Microvascular complications of diabetes, susceptibility to, 6 | 1 test |
| Microvascular complications of diabetes, susceptibility to, 7 | 2 tests |
| Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | 2 tests |
| Migraine | 5 tests |
| Migraine, familial hemiplegic, 1 | 4 tests |
| Migraine, familial hemiplegic, 2 | 1 test |
| Migraine, familial hemiplegic, 3 | 2 tests |
| Migraine, with or without aura, susceptibility to, 13 | 1 test |
| Miller Dieker syndrome | 2 tests |
| Miller syndrome | 2 tests |
| Mirror movements 1 | 1 test |
| Mirror movements 2 | 1 test |
| Mirror movements 3 | 1 test |
| Mismatch repair cancer syndrome 1 | 15 tests |
| Mitochondrial DNA deletion syndrome with progressive myopathy | 2 tests |
| Mitochondrial DNA depletion syndrome 1 | 2 tests |
| Mitochondrial DNA depletion syndrome 11 | 2 tests |
| Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant | 4 tests |
| Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive | 4 tests |
| Mitochondrial DNA depletion syndrome 13 | 2 tests |
| Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) | 2 tests |
| Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | 2 tests |
| Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | 4 tests |
| Mitochondrial DNA depletion syndrome 4b | 4 tests |
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 4 tests |
| Mitochondrial DNA depletion syndrome 8a | 8 tests |
| Mitochondrial DNA depletion syndrome 9 | 4 tests |
| Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | 4 tests |
| Mitochondrial DNA depletion syndrome, myopathic form | 4 tests |
| Mitochondrial complex I deficiency, nuclear type 1 | 33 tests |
| Mitochondrial complex II deficiency, nuclear type 1 | 10 tests |
| Mitochondrial complex III deficiency nuclear type 1 | 2 tests |
| Mitochondrial complex III deficiency nuclear type 2 | 2 tests |
| Mitochondrial complex III deficiency nuclear type 3 | 2 tests |
| Mitochondrial complex III deficiency nuclear type 4 | 2 tests |
| Mitochondrial complex III deficiency nuclear type 5 | 2 tests |
| Mitochondrial complex III deficiency nuclear type 6 | 2 tests |
| Mitochondrial complex III deficiency nuclear type 7 | 2 tests |
| Mitochondrial complex III deficiency nuclear type 8 | 2 tests |
| Mitochondrial complex III deficiency nuclear type 9 | 2 tests |
| Mitochondrial complex IV deficiency, nuclear type 1 | 22 tests |
| Mitochondrial complex V (ATP synthase) deficiency nuclear type 3 | 2 tests |
| Mitochondrial complex V (ATP synthase) deficiency nuclear type 4B | 2 tests |
| Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 | 4 tests |
| Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | 2 tests |
| Mitochondrial myopathy-lactic acidosis-deafness syndrome | 2 tests |
| Mitochondrial pyruvate carrier deficiency | 2 tests |
| Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | 2 tests |
| Mitochondrial trifunctional protein deficiency | 3 tests |
| Mitral valve prolapse, myxomatous 2 | 1 test |
| Miyoshi muscular dystrophy 1 | 4 tests |
| Miyoshi muscular dystrophy 3 | 4 tests |
| Monocytopenia with susceptibility to infections | 4 tests |
| Mosaic variegated aneuploidy syndrome 1 | 1 test |
| Mosaic variegated aneuploidy syndrome 2 | 1 test |
| Mowat-Wilson syndrome | 2 tests |
| Moyamoya disease 2 | 1 test |
| Moyamoya disease 5 | 1 test |
| Moyamoya disease with early-onset achalasia | 1 test |
| Mucolipidosis type II | 2 tests |
| Mucolipidosis type IV | 2 tests |
| Mucopolysaccharidosis type 6 | 2 tests |
| Mucopolysaccharidosis type 7 | 2 tests |
| Mucopolysaccharidosis, MPS-I-H/S | 2 tests |
| Mucopolysaccharidosis, MPS-I-S | 2 tests |
| Mucopolysaccharidosis, MPS-II | 4 tests |
| Mucopolysaccharidosis, MPS-III-A | 2 tests |
| Mucopolysaccharidosis, MPS-III-B | 2 tests |
| Mucopolysaccharidosis, MPS-III-C | 2 tests |
| Mucopolysaccharidosis, MPS-III-D | 2 tests |
| Mucopolysaccharidosis, MPS-IV-A | 2 tests |
| Mucopolysaccharidosis, MPS-IV-B | 2 tests |
| Muenke syndrome | 4 tests |
| Muir-Torré syndrome | 2 tests |
| Mulibrey nanism syndrome | 2 tests |
| Mullerian aplasia and hyperandrogenism | 2 tests |
| Multicentric carpo-tarsal osteolysis with or without nephropathy | 1 test |
| Multicentric osteolysis nodulosis arthropathy spectrum | 3 tests |
| Multiple acyl-CoA dehydrogenase deficiency | 6 tests |
| Multiple benign circumferential skin creases on limbs 1 | 2 tests |
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 2 tests |
| Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 2 tests |
| Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 2 tests |
| Multiple congenital exostosis | 2 tests |
| Multiple endocrine neoplasia type 2A | 2 tests |
| Multiple endocrine neoplasia type 2B | 2 tests |
| Multiple endocrine neoplasia type 4 | 2 tests |
| Multiple endocrine neoplasia, type 1 | 8 tests |
| Multiple epiphyseal dysplasia type 4 | 2 tests |
| Multiple epiphyseal dysplasia, Al-Gazali type | 2 tests |
| Multiple epiphyseal dysplasia, Beighton type | 4 tests |
| Multiple fibroadenoma of the breast | 1 test |
| Multiple gastrointestinal atresias | 1 test |
| Multiple mitochondrial dysfunctions syndrome 1 | 2 tests |
| Multiple mitochondrial dysfunctions syndrome 2 | 2 tests |
| Multiple mitochondrial dysfunctions syndrome 3 | 2 tests |
| Multiple mitochondrial dysfunctions syndrome 4 | 2 tests |
| Multiple myeloma | 2 tests |
| Multiple sclerosis, susceptibility to | 3 tests |
| Multiple sclerosis, susceptibility to, 5 | 1 test |
| Multiple self-healing squamous epithelioma | 2 tests |
| Multiple sulfatase deficiency | 2 tests |
| Multiple synostoses syndrome 2 | 1 test |
| Multiple synostoses syndrome 3 | 1 test |
| Multiple system atrophy | 1 test |
| Multisystemic smooth muscle dysfunction syndrome | 1 test |
| Muscle AMP deaminase deficiency | 2 tests |
| Muscle eye brain disease | 4 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 4 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | 2 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | 8 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 | 2 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 | 3 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | 4 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 | 2 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 | 2 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 | 2 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 2 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 | 2 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | 2 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | 4 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 | 2 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 | 4 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | 4 tests |
| Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 | 4 tests |
| Muscular dystrophy-dystroglycanopathy type B5 | 4 tests |
| Muscular dystrophy-dystroglycanopathy type B6 | 2 tests |
| Mutilating keratoderma | 1 test |
| Myasthenic syndrome, congenital, 1B, fast-channel | 2 tests |
| Myasthenic syndrome, congenital, 22 | 2 tests |
| Myasthenic syndrome, slow-channel congenital | 2 tests |
| Mycobacterium tuberculosis, susceptibility to | 13 tests |
| Myelodysplastic syndrome | 5 tests |
| Myelodysplastic syndrome associated with isolated del(5q) | 2 tests |
| Myeloid neoplasm associated with FGFR1 rearrangement | 2 tests |
| Myeloperoxidase deficiency | 2 tests |
| Myeloproliferative disorder, chronic, with eosinophilia | 1 test |
| Myhre syndrome | 4 tests |
| Myocardial infarction, susceptibility to, 1 | 12 tests |
| Myoclonic dystonia 11 | 2 tests |
| Myoclonic dystonia 26 | 1 test |
| Myoclonic-astatic epilepsy | 1 test |
| Myoclonus, familial, 1 | 1 test |
| Myoclonus, intractable, neonatal | 1 test |
| Myofibrillar myopathy 2 | 2 tests |
| Myofibrillar myopathy 3 | 8 tests |
| Myofibrillar myopathy 4 | 2 tests |
| Myofibrillar myopathy 5 | 2 tests |
| Myofibrillar myopathy 6 | 4 tests |
| Myofibrillar myopathy 7 | 2 tests |
| Myofibrillar myopathy 8 | 2 tests |
| Myofibromatosis, infantile, 1 | 1 test |
| Myofibromatosis, infantile, 2 | 2 tests |
| Myoglobinuria, acute recurrent, autosomal recessive | 1 test |
| Myopathy due to calsequestrin and SERCA1 protein overload | 2 tests |
| Myopathy with abnormal lipid metabolism | 1 test |
| Myopathy, centronuclear, 2 | 2 tests |
| Myopathy, centronuclear, 5 | 2 tests |
| Myopathy, distal, 5 | 2 tests |
| Myopathy, distal, with rimmed vacuoles | 1 test |
| Myopathy, lactic acidosis, and sideroblastic anemia 1 | 2 tests |
| Myopathy, lactic acidosis, and sideroblastic anemia 2 | 2 tests |
| Myopathy, myofibrillar, 9, with early respiratory failure | 2 tests |
| Myopathy, myosin storage, autosomal recessive | 4 tests |
| Myopathy, proximal, and ophthalmoplegia | 2 tests |
| Myopathy, reducing body, X-linked, childhood-onset | 3 tests |
| Myopathy, reducing body, X-linked, early-onset, severe | 2 tests |
| Myopathy, tubular aggregate, 1 | 2 tests |
| Myopathy, tubular aggregate, 2 | 2 tests |
| Myopia 21, autosomal dominant | 1 test |
| Myopia 22, autosomal dominant | 1 test |
| Myopia 23, autosomal recessive | 1 test |
| Myopia 24, autosomal dominant | 1 test |
| Myopia 25, autosomal dominant | 1 test |
| Myopia 6 | 1 test |
| Myopia, high, with cataract and vitreoretinal degeneration | 1 test |
| Myosclerosis | 2 tests |
| Myosin storage myopathy | 6 tests |
| Myostatin-related muscle hypertrophy | 2 tests |
| Myotonic dystrophy type 2 | 1 test |
| Myxoid liposarcoma | 2 tests |
| N-acetylaspartate deficiency | 2 tests |
| NDE1-related microhydranencephaly | 1 test |
| NEK9-related lethal skeletal dysplasia | 2 tests |
| NPHP3-related Meckel-like syndrome | 2 tests |
| Naegeli-Franceschetti-Jadassohn syndrome | 4 tests |
| Nager syndrome | 2 tests |
| Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome | 2 tests |
| Nail-patella syndrome | 4 tests |
| Namaqualand hip dysplasia | 2 tests |
| Nance-Horan syndrome | 2 tests |
| Nanophthalmos 2 | 1 test |
| Nanophthalmos 4 | 1 test |
| Narcolepsy 1 | 1 test |
| Narcolepsy 7 | 1 test |
| Nasopharyngeal carcinoma | 5 tests |
| Naxos disease | 2 tests |
| Nemaline myopathy 10 | 2 tests |
| Nemaline myopathy 2 | 2 tests |
| Nemaline myopathy 5 | 2 tests |
| Nemaline myopathy 6 | 2 tests |
| Nemaline myopathy 7 | 2 tests |
| Nemaline myopathy 8 | 2 tests |
| Nemaline myopathy 9 | 2 tests |
| Neonatal diabetes mellitus with congenital hypothyroidism | 2 tests |
| Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | 2 tests |
| Neonatal ichthyosis-sclerosing cholangitis syndrome | 2 tests |
| Neonatal intrahepatic cholestasis due to citrin deficiency | 2 tests |
| Neonatal severe primary hyperparathyroidism | 2 tests |
| Neonatal-onset encephalopathy with rigidity and seizures | 2 tests |
| Neoplasm of stomach | 8 tests |
| Nephrogenic syndrome of inappropriate antidiuresis | 1 test |
| Nephrolithiasis, uric acid, susceptibility to | 1 test |
| Nephronophthisis 1 | 4 tests |
| Nephronophthisis 11 | 2 tests |
| Nephronophthisis 12 | 2 tests |
| Nephronophthisis 13 | 2 tests |
| Nephronophthisis 14 | 4 tests |
| Nephronophthisis 15 | 2 tests |
| Nephronophthisis 16 | 2 tests |
| Nephronophthisis 18 | 2 tests |
| Nephronophthisis 19 | 2 tests |
| Nephronophthisis 20 | 2 tests |
| Nephronophthisis 3 | 2 tests |
| Nephronophthisis 4 | 4 tests |
| Nephronophthisis 7 | 1 test |
| Nephronophthisis 9 | 2 tests |
| Nephronophthisis-like nephropathy 1 | 2 tests |
| Nephropathic cystinosis | 8 tests |
| Nephrotic syndrome, type 10 | 2 tests |
| Nephrotic syndrome, type 11 | 2 tests |
| Nephrotic syndrome, type 12 | 2 tests |
| Nephrotic syndrome, type 13 | 2 tests |
| Nephrotic syndrome, type 2 | 2 tests |
| Nephrotic syndrome, type 3 | 2 tests |
| Nephrotic syndrome, type 4 | 4 tests |
| Nephrotic syndrome, type 6 | 2 tests |
| Nephrotic syndrome, type 8 | 2 tests |
| Nephrotic syndrome, type 9 | 2 tests |
| Nestor-Guillermo progeria syndrome | 2 tests |
| Netherton syndrome | 2 tests |
| Neu-Laxova syndrome 1 | 2 tests |
| Neu-Laxova syndrome 2 | 3 tests |
| Neural tube defect | 6 tests |
| Neural tube defects, folate-sensitive | 5 tests |
| Neuroblastoma | 2 tests |
| Neuroblastoma, susceptibility to, 2 | 6 tests |
| Neuroblastoma, susceptibility to, 3 | 1 test |
| Neurocirculatory asthenia | 1 test |
| Neurocutaneous melanocytosis | 1 test |
| Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 2 tests |
| Neurodegeneration with brain iron accumulation 2B | 4 tests |
| Neurodegeneration with brain iron accumulation 4 | 2 tests |
| Neurodegeneration with brain iron accumulation 5 | 2 tests |
| Neurodegeneration with brain iron accumulation 6 | 2 tests |
| Neurodevelopmental disorder with hypotonia, seizures, and absent language | 2 tests |
| Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | 2 tests |
| Neuroferritinopathy | 2 tests |
| Neurofibromatosis, familial spinal | 6 tests |
| Neurofibromatosis, type 1 | 6 tests |
| Neurofibromatosis, type 2 | 4 tests |
| Neurofibromatosis-Noonan syndrome | 6 tests |
| Neurogenic scapuloperoneal syndrome, Kaeser type | 1 test |
| Neurohypophyseal diabetes insipidus | 1 test |
| Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | 2 tests |
| Neuronal ceroid lipofuscinosis 1 | 2 tests |
| Neuronal ceroid lipofuscinosis 10 | 2 tests |
| Neuronal ceroid lipofuscinosis 11 | 2 tests |
| Neuronal ceroid lipofuscinosis 13 | 2 tests |
| Neuronal ceroid lipofuscinosis 2 | 2 tests |
| Neuronal ceroid lipofuscinosis 3 | 2 tests |
| Neuronal ceroid lipofuscinosis 5 | 2 tests |
| Neuronal ceroid lipofuscinosis 7 | 2 tests |
| Neuronal ceroid lipofuscinosis 8 | 2 tests |
| Neuronal ceroid lipofuscinosis 8 northern epilepsy variant | 2 tests |
| Neuronopathy, distal hereditary motor, autosomal recessive 4 | 2 tests |
| Neuronopathy, distal hereditary motor, autosomal recessive 5 | 2 tests |
| Neuronopathy, distal hereditary motor, type 2A | 1 test |
| Neuronopathy, distal hereditary motor, type 2B | 2 tests |
| Neuronopathy, distal hereditary motor, type 2C | 2 tests |
| Neuronopathy, distal hereditary motor, type 2D | 1 test |
| Neuronopathy, distal hereditary motor, type 5A | 1 test |
| Neuronopathy, distal hereditary motor, type 5B | 4 tests |
| Neuronopathy, distal hereditary motor, type 7A | 2 tests |
| Neuronopathy, distal hereditary motor, type 7B | 1 test |
| Neuropathy, hereditary motor and sensory, type 6B | 1 test |
| Neuropathy, hereditary sensory and autonomic, type 1C | 1 test |
| Neuropathy, hereditary sensory, type 1D | 1 test |
| Neuropathy, hereditary sensory, type 1F | 1 test |
| Neutral 1 amino acid transport defect | 2 tests |
| Neutral lipid storage myopathy | 2 tests |
| Neutropenia, severe congenital, 1, autosomal dominant | 2 tests |
| Neutropenia, severe congenital, 2, autosomal dominant | 2 tests |
| Neutrophil immunodeficiency syndrome | 2 tests |
| Newfoundland cone-rod dystrophy | 1 test |
| Nicolaides-Baraitser syndrome | 2 tests |
| Niemann-Pick disease, type A | 2 tests |
| Niemann-Pick disease, type B | 2 tests |
| Niemann-Pick disease, type C1 | 8 tests |
| Niemann-Pick disease, type C2 | 4 tests |
| Nijmegen breakage syndrome-like disorder | 2 tests |
| Non-Hodgkin lymphoma | 6 tests |
| Non-acquired combined pituitary hormone deficiency with spine abnormalities | 2 tests |
| Non-ketotic hyperglycinemia | 8 tests |
| Nonarteritic anterior ischemic optic neuropathy, susceptibility to | 1 test |
| Nonimmune chronic idiopathic neutropenia of adults | 2 tests |
| Nonpapillary renal cell carcinoma | 11 tests |
| Nonpersistence of intestinal lactase | 1 test |
| Nonsyndromic congenital nail disorder 8 | 2 tests |
| Noonan syndrome 1 | 2 tests |
| Noonan syndrome 10 | 4 tests |
| Noonan syndrome 3 | 4 tests |
| Noonan syndrome 4 | 2 tests |
| Noonan syndrome 5 | 2 tests |
| Noonan syndrome 6 | 4 tests |
| Noonan syndrome 7 | 2 tests |
| Noonan syndrome 8 | 2 tests |
| Noonan syndrome 9 | 2 tests |
| Noonan syndrome-like disorder with loose anagen hair 1 | 1 test |
| Norman-Roberts syndrome | 2 tests |
| Normophosphatemic familial tumoral calcinosis | 1 test |
| Nystagmus 1, congenital, X-linked | 4 tests |
| Nystagmus 6, congenital, X-linked | 2 tests |
| OBESITY (BMIQ9), SUSCEPTIBILITY TO | 2 tests |
| OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO | 1 test |
| Obesity | 20 tests |
| Obesity due to CEP19 deficiency | 1 test |
| Obesity due to congenital leptin deficiency | 2 tests |
| Obesity due to leptin receptor gene deficiency | 2 tests |
| Obesity due to pro-opiomelanocortin deficiency | 2 tests |
| Obesity due to prohormone convertase I deficiency | 1 test |
| Obesity, hyperphagia, and developmental delay | 1 test |
| Obsessive-compulsive disorder | 4 tests |
| Occipital pachygyria and polymicrogyria | 2 tests |
| Occult macular dystrophy | 1 test |
| Ocular albinism with congenital sensorineural hearing loss | 8 tests |
| Ocular albinism, type I | 2 tests |
| Ocular cystinosis | 4 tests |
| Oculoauricular syndrome | 1 test |
| Oculocerebrofacial syndrome, Kaufman type | 2 tests |
| Oculocutaneous albinism type 1B | 2 tests |
| Oculocutaneous albinism type 3 | 1 test |
| Oculocutaneous albinism type 4 | 1 test |
| Oculocutaneous albinism type 7 | 1 test |
| Oculodentodigital dysplasia | 2 tests |
| Oculodentodigital dysplasia, autosomal recessive | 2 tests |
| Oculofaciocardiodental syndrome | 1 test |
| Oculomaxillofacial dysostosis | 2 tests |
| Oculootoradial syndrome | 4 tests |
| Oculopharyngeal muscular dystrophy | 2 tests |
| Oculotrichoanal syndrome | 2 tests |
| Odonto-onycho-dermal dysplasia | 1 test |
| Ogden syndrome | 1 test |
| Oguchi disease | 2 tests |
| Oguchi disease-2 | 2 tests |
| Okt4 epitope deficiency | 4 tests |
| Okur-Chung neurodevelopmental syndrome | 2 tests |
| Oligodontia-cancer predisposition syndrome | 1 test |
| Olmsted syndrome 1 | 2 tests |
| Olmsted syndrome, X-linked | 2 tests |
| Oocyte maturation defect 2 | 1 test |
| Opsismodysplasia | 2 tests |
| Optic atrophy 10 with or without ataxia, intellectual disability, and seizures | 2 tests |
| Optic atrophy 11 | 1 test |
| Optic atrophy 3 | 1 test |
| Optic atrophy 9 | 1 test |
| Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | 2 tests |
| Ornithine aminotransferase deficiency | 2 tests |
| Ornithine carbamoyltransferase deficiency | 4 tests |
| Orofacial cleft 10 | 2 tests |
| Orofacial cleft 11 | 4 tests |
| Orofacial cleft 15 | 2 tests |
| Orofacial cleft 5 | 2 tests |
| Orofacial cleft 6, susceptibility to | 4 tests |
| Orofacial-digital syndrome IV | 2 tests |
| Orofaciodigital syndrome I | 2 tests |
| Orofaciodigital syndrome V | 2 tests |
| Orofaciodigital syndrome XV | 2 tests |
| Orofaciodigital syndrome type 14 | 2 tests |
| Orofaciodigital syndrome type 6 | 2 tests |
| Oroticaciduria | 2 tests |
| Orthostatic hypotension 1 | 3 tests |
| Osteoarthritis | 1 test |
| Osteoarthritis of distal interphalangeal joint | 1 test |
| Osteoarthritis susceptibility 3 | 1 test |
| Osteoarthritis, hip | 1 test |
| Osteochondritis dissecans | 1 test |
| Osteocraniostenosis | 2 tests |
| Osteodysplastic primordial dwarfism, type 1 | 2 tests |
| Osteofibrous dysplasia | 2 tests |
| Osteogenesis imperfecta type 10 | 2 tests |
| Osteogenesis imperfecta type 11 | 2 tests |
| Osteogenesis imperfecta type 12 | 2 tests |
| Osteogenesis imperfecta type 13 | 2 tests |
| Osteogenesis imperfecta type 14 | 2 tests |
| Osteogenesis imperfecta type 15 | 2 tests |
| Osteogenesis imperfecta type 16 | 2 tests |
| Osteogenesis imperfecta type 17 | 2 tests |
| Osteogenesis imperfecta type 5 | 2 tests |
| Osteogenesis imperfecta type 6 | 2 tests |
| Osteogenesis imperfecta type 7 | 2 tests |
| Osteogenesis imperfecta type 8 | 2 tests |
| Osteogenesis imperfecta type 9 | 2 tests |
| Osteogenesis imperfecta type I | 4 tests |
| Osteogenesis imperfecta type III | 8 tests |
| Osteogenesis imperfecta with normal sclerae, dominant form | 8 tests |
| Osteogenesis imperfecta, perinatal lethal | 8 tests |
| Osteoglophonic dysplasia | 4 tests |
| Osteopathia striata with cranial sclerosis | 2 tests |
| Osteopetrosis with renal tubular acidosis | 1 test |
| Osteoporosis with pseudoglioma | 4 tests |
| Otodental syndrome | 2 tests |
| Otofaciocervical syndrome 1 | 4 tests |
| Otofaciocervical syndrome 2 | 2 tests |
| Otospondylomegaepiphyseal dysplasia, autosomal dominant | 1 test |
| Otospondylomegaepiphyseal dysplasia, autosomal recessive | 2 tests |
| Ovarian dysgenesis 1 | 1 test |
| Ovarian dysgenesis 2 | 2 tests |
| Ovarian dysgenesis 3 | 1 test |
| Ovarian hyperstimulation syndrome | 1 test |
| Ovarian neoplasm | 5 tests |
| Overhydrated hereditary stomatocytosis | 3 tests |
| Oxoglutaricaciduria | 2 tests |
| PCWH syndrome | 2 tests |
| PERCHING syndrome | 2 tests |
| PGM1-congenital disorder of glycosylation | 2 tests |
| PHARC syndrome | 2 tests |
| PHGDH deficiency | 2 tests |
| PLIN1-related familial partial lipodystrophy | 1 test |
| PMM2-congenital disorder of glycosylation | 2 tests |
| PPARG-related familial partial lipodystrophy | 4 tests |
| PSAT deficiency | 1 test |
| PULMONARY ALVEOLAR MICROLITHIASIS | 1 test |
| PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 2 tests |
| PYCR1-related de Barsy syndrome | 2 tests |
| Pachyonychia congenita 1 | 1 test |
| Pachyonychia congenita 2 | 1 test |
| Pachyonychia congenita 3 | 1 test |
| Pachyonychia congenita 4 | 1 test |
| Paget disease of bone 2, early-onset | 1 test |
| Paget disease of bone 3 | 1 test |
| Paget disease of bone 6 | 1 test |
| Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | 2 tests |
| Pallister-Hall syndrome | 4 tests |
| Palmoplantar keratoderma i, striate, focal, or diffuse | 1 test |
| Palmoplantar keratoderma, Bothnian type | 1 test |
| Palmoplantar keratoderma, Nagashima type | 1 test |
| Palmoplantar keratoderma, epidermolytic | 2 tests |
| Palmoplantar keratoderma, nonepidermolytic, focal 1 | 1 test |
| Palmoplantar keratoderma, nonepidermolytic, focal or diffuse | 1 test |
| Palmoplantar keratoderma, punctate type 1A | 1 test |
| Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome | 2 tests |
| Palmoplantar keratoderma-deafness syndrome | 1 test |
| Palmoplantar keratoderma-esophageal carcinoma syndrome | 1 test |
| Pancreatic agenesis 1 | 2 tests |
| Pancreatic agenesis 2 | 2 tests |
| Pancreatic cancer, susceptibility to, 1 | 1 test |
| Pancreatic cancer, susceptibility to, 2 | 2 tests |
| Pancreatic cancer, susceptibility to, 3 | 2 tests |
| Pancreatic cancer, susceptibility to, 4 | 2 tests |
| Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | 2 tests |
| Pancreatic insufficiency-anemia-hyperostosis syndrome | 2 tests |
| Pancreatic triacylglycerol lipase deficiency | 1 test |
| Pancytopenia due to IKZF1 mutations | 2 tests |
| Pancytopenia-developmental delay syndrome | 2 tests |
| Panhypopituitarism, X-linked | 1 test |
| Panic disorder 1 | 1 test |
| Papillary renal cell carcinoma type 1 | 2 tests |
| Papillon-Lefèvre syndrome | 1 test |
| Paragangliomas 1 | 2 tests |
| Paramyotonia congenita of Von Eulenburg | 4 tests |
| Parastremmatic dwarfism | 2 tests |
| Parathyroid carcinoma | 2 tests |
| Parietal foramina 1 | 2 tests |
| Parietal foramina 2 | 2 tests |
| Parietal foramina with cleidocranial dysplasia | 2 tests |
| Parkinson disease 11, autosomal dominant, susceptibility to | 1 test |
| Parkinson disease 13, autosomal dominant, susceptibility to | 1 test |
| Parkinson disease 17 | 1 test |
| Parkinson disease 18, autosomal dominant, susceptibility to | 1 test |
| Parkinson disease 22, autosomal dominant | 1 test |
| Parkinson disease 5, autosomal dominant, susceptibility to | 2 tests |
| Parkinson disease, late-onset | 7 tests |
| Parkinsonian-pyramidal syndrome | 1 test |
| Paroxysmal extreme pain disorder | 1 test |
| Paroxysmal nocturnal hemoglobinuria 1 | 1 test |
| Paroxysmal nocturnal hemoglobinuria 2 | 1 test |
| Paroxysmal nonkinesigenic dyskinesia 1 | 3 tests |
| Partial androgen insensitivity syndrome | 4 tests |
| Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | 2 tests |
| Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome | 2 tests |
| Partington syndrome | 4 tests |
| Patent ductus arteriosus 2 | 1 test |
| Patent ductus arteriosus 3 | 1 test |
| Patterned macular dystrophy 1 | 2 tests |
| Patterned macular dystrophy 2 | 1 test |
| Patterned macular dystrophy 3 | 1 test |
| Peeling skin syndrome 1 | 1 test |
| Peeling skin syndrome 4 | 1 test |
| Peeling skin syndrome 5 | 1 test |
| Peeling skin syndrome type A | 1 test |
| Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome | 1 test |
| Pelger-Huët anomaly | 2 tests |
| Pelizaeus-Merzbacher disease | 4 tests |
| Pelviscapular dysplasia | 2 tests |
| Pendred syndrome | 2 tests |
| Periodic fever-infantile enterocolitis-autoinflammatory syndrome | 1 test |
| Periodontitis, aggressive 1 | 1 test |
| Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | 1 test |
| Periventricular heterotopia with microcephaly, autosomal recessive | 2 tests |
| Periventricular nodular heterotopia 6 | 2 tests |
| Periventricular nodular heterotopia 7 | 2 tests |
| Perlman syndrome | 2 tests |
| Permanent neonatal diabetes mellitus | 6 tests |
| Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome | 2 tests |
| Peroxisome biogenesis disorder 10A (Zellweger) | 2 tests |
| Peroxisome biogenesis disorder 10B | 2 tests |
| Peroxisome biogenesis disorder 11A (Zellweger) | 2 tests |
| Peroxisome biogenesis disorder 11B | 2 tests |
| Peroxisome biogenesis disorder 12A (Zellweger) | 2 tests |
| Peroxisome biogenesis disorder 13A (Zellweger) | 2 tests |
| Peroxisome biogenesis disorder 14B | 2 tests |
| Peroxisome biogenesis disorder 1A (Zellweger) | 2 tests |
| Peroxisome biogenesis disorder 1B | 2 tests |
| Peroxisome biogenesis disorder 2A (Zellweger) | 2 tests |
| Peroxisome biogenesis disorder 2B | 2 tests |
| Peroxisome biogenesis disorder 3A (Zellweger) | 2 tests |
| Peroxisome biogenesis disorder 4A (Zellweger) | 2 tests |
| Peroxisome biogenesis disorder 4B | 2 tests |
| Peroxisome biogenesis disorder 5A (Zellweger) | 2 tests |
| Peroxisome biogenesis disorder 5B | 2 tests |
| Peroxisome biogenesis disorder 6A (Zellweger) | 2 tests |
| Peroxisome biogenesis disorder 6B | 2 tests |
| Peroxisome biogenesis disorder 7A (Zellweger) | 2 tests |
| Peroxisome biogenesis disorder 7B | 2 tests |
| Peroxisome biogenesis disorder 8A (Zellweger) | 2 tests |
| Peroxisome biogenesis disorder 8B | 2 tests |
| Peroxisome biogenesis disorder 9B | 2 tests |
| Peroxisome biogenesis disorder type 3B | 2 tests |
| Perrault syndrome 1 | 2 tests |
| Perrault syndrome 2 | 2 tests |
| Perrault syndrome 3 | 2 tests |
| Perrault syndrome 4 | 2 tests |
| Perrault syndrome 5 | 4 tests |
| Perry syndrome | 2 tests |
| Persistent Mullerian duct syndrome | 2 tests |
| Persistent hyperplastic primary vitreous, autosomal recessive | 1 test |
| Peters plus syndrome | 2 tests |
| Pettigrew syndrome | 3 tests |
| Peutz-Jeghers syndrome | 3 tests |
| Pfeiffer syndrome | 8 tests |
| Phelan-McDermid syndrome | 2 tests |
| Phenylketonuria | 6 tests |
| Pheochromocytoma | 10 tests |
| Phosphate transport defect | 2 tests |
| Phosphoenolpyruvate carboxykinase deficiency, cytosolic | 2 tests |
| Phosphoenolpyruvate carboxykinase deficiency, mitochondrial | 3 tests |
| Phosphohydroxylysinuria | 1 test |
| Phosphoribosylpyrophosphate synthetase superactivity | 2 tests |
| Phytanic acid storage disease | 3 tests |
| Pick disease | 4 tests |
| Piebaldism | 4 tests |
| Pierpont syndrome | 2 tests |
| Pierson syndrome | 2 tests |
| Pigmentary pallidal degeneration | 4 tests |
| Pigmentary retinal dystrophy | 7 tests |
| Pigmented nodular adrenocortical disease, primary, 1 | 1 test |
| Pigmented nodular adrenocortical disease, primary, 2 | 1 test |
| Pigmented nodular adrenocortical disease, primary, 3 | 1 test |
| Pigmented nodular adrenocortical disease, primary, 4 | 1 test |
| Pigmented paravenous retinochoroidal atrophy | 2 tests |
| Pili torti-deafness syndrome | 2 tests |
| Pilomatrixoma | 2 tests |
| Pitt-Hopkins syndrome | 2 tests |
| Pitt-Hopkins-like syndrome 2 | 4 tests |
| Pituitary dependent hypercortisolism | 2 tests |
| Pituitary hormone deficiency, combined, 1 | 2 tests |
| Pituitary hormone deficiency, combined, 2 | 2 tests |
| Pituitary hormone deficiency, combined, 6 | 1 test |
| Pityriasis rubra pilaris | 1 test |
| Plasma fibronectin deficiency | 1 test |
| Plasma triglyceride level quantitative trait locus | 1 test |
| Plasminogen deficiency, type I | 2 tests |
| Platelet-activating factor acetylhydrolase deficiency | 1 test |
| Platelet-type bleeding disorder 10 | 2 tests |
| Platelet-type bleeding disorder 11 | 1 test |
| Platelet-type bleeding disorder 15 | 1 test |
| Platelet-type bleeding disorder 16 | 2 tests |
| Platelet-type bleeding disorder 17 | 1 test |
| Platelet-type bleeding disorder 18 | 1 test |
| Platelet-type bleeding disorder 19 | 1 test |
| Platelet-type bleeding disorder 20 | 1 test |
| Platelet-type bleeding disorder 8 | 2 tests |
| Platelet-type bleeding disorder 9 | 2 tests |
| Platyspondylic dysplasia, Torrance type | 4 tests |
| Pleomorphic adenoma of salivary gland | 1 test |
| Poikiloderma with neutropenia | 1 test |
| Polyagglutinable erythrocyte syndrome | 1 test |
| Polycystic kidney disease 2 | 4 tests |
| Polycystic kidney disease 3 with or without polycystic liver disease | 2 tests |
| Polycystic kidney disease, adult type | 4 tests |
| Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 | 3 tests |
| Polycystic liver disease 1 | 2 tests |
| Polycystic liver disease 2 | 2 tests |
| Polydactyly of a triphalangeal thumb | 3 tests |
| Polydactyly, postaxial, type A1 | 2 tests |
| Polyendocrine-polyneuropathy syndrome | 1 test |
| Polyglandular autoimmune syndrome, type 1 | 2 tests |
| Polyglucosan body myopathy type 1 | 2 tests |
| Polyglucosan body myopathy type 2 | 2 tests |
| Polyhydramnios, megalencephaly, and symptomatic epilepsy | 1 test |
| Polymicrogyria with optic nerve hypoplasia | 2 tests |
| Polymicrogyria, bilateral perisylvian, autosomal recessive | 2 tests |
| Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | 2 tests |
| Polyposis syndrome, hereditary mixed, 1 | 2 tests |
| Polyposis syndrome, hereditary mixed, 2 | 2 tests |
| Polysubstance abuse, susceptibility to | 2 tests |
| Polysyndactyly 4 | 2 tests |
| Pontocerebellar hypoplasia type 10 | 2 tests |
| Pontocerebellar hypoplasia type 1A | 2 tests |
| Pontocerebellar hypoplasia type 1B | 2 tests |
| Pontocerebellar hypoplasia type 2A | 2 tests |
| Pontocerebellar hypoplasia type 2B | 2 tests |
| Pontocerebellar hypoplasia type 2C | 2 tests |
| Pontocerebellar hypoplasia type 2D | 2 tests |
| Pontocerebellar hypoplasia type 2E | 2 tests |
| Pontocerebellar hypoplasia type 3 | 2 tests |
| Pontocerebellar hypoplasia type 4 | 2 tests |
| Pontocerebellar hypoplasia type 5 | 2 tests |
| Pontocerebellar hypoplasia type 6 | 2 tests |
| Pontocerebellar hypoplasia type 8 | 2 tests |
| Pontocerebellar hypoplasia type 9 | 2 tests |
| Pontocerebellar hypoplasia, type 1C | 2 tests |
| Pontocerebellar hypoplasia, type 2F | 2 tests |
| Popliteal pterygium syndrome | 4 tests |
| Porencephaly 2 | 2 tests |
| Porencephaly-microcephaly-bilateral congenital cataract syndrome | 2 tests |
| Porokeratosis 3, disseminated superficial actinic type | 1 test |
| Porokeratosis 7, multiple types | 1 test |
| Porokeratosis 8, disseminated superficial actinic type | 1 test |
| Porokeratosis 9, multiple types | 1 test |
| Porokeratosis of Mibelli | 1 test |
| Porphobilinogen synthase deficiency | 6 tests |
| Portal hypertension, noncirrhotic | 4 tests |
| Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | 3 tests |
| Posterior column ataxia-retinitis pigmentosa syndrome | 1 test |
| Posterior polymorphous corneal dystrophy 1 | 1 test |
| Posterior polymorphous corneal dystrophy 2 | 1 test |
| Posterior polymorphous corneal dystrophy 3 | 1 test |
| Postmenopausal osteoporosis | 9 tests |
| Potassium-aggravated myotonia | 2 tests |
| Potocki-Lupski syndrome | 2 tests |
| Prader-Willi syndrome | 8 tests |
| Precocious puberty, central, 2 | 2 tests |
| Predisposition to invasive fungal disease due to CARD9 deficiency | 2 tests |
| Preeclampsia/eclampsia 4 | 1 test |
| Preeclampsia/eclampsia 5 | 1 test |
| Pregnancy loss, recurrent, susceptibility to, 1 | 2 tests |
| Pregnancy loss, recurrent, susceptibility to, 2 | 1 test |
| Pregnancy loss, recurrent, susceptibility to, 3 | 1 test |
| Preimplantation embryonic lethality 2 | 1 test |
| Prekallikrein deficiency | 1 test |
| Premature chromatid separation trait | 1 test |
| Premature ovarian failure 1 | 2 tests |
| Premature ovarian failure 10 | 1 test |
| Premature ovarian failure 11 | 1 test |
| Premature ovarian failure 12 | 1 test |
| Premature ovarian failure 2A | 1 test |
| Premature ovarian failure 2B | 1 test |
| Premature ovarian failure 3 | 2 tests |
| Premature ovarian failure 5 | 1 test |
| Premature ovarian failure 6 | 1 test |
| Premature ovarian failure 7 | 4 tests |
| Premature ovarian failure 8 | 1 test |
| Premature ovarian failure 9 | 1 test |
| Preterm premature rupture of membranes | 1 test |
| Pretibial dystrophic epidermolysis bullosa | 4 tests |
| Primary CD59 deficiency | 2 tests |
| Primary ciliary dyskinesia 10 | 1 test |
| Primary ciliary dyskinesia 11 | 1 test |
| Primary ciliary dyskinesia 12 | 1 test |
| Primary ciliary dyskinesia 13 | 1 test |
| Primary ciliary dyskinesia 14 | 1 test |
| Primary ciliary dyskinesia 15 | 1 test |
| Primary ciliary dyskinesia 16 | 1 test |
| Primary ciliary dyskinesia 17 | 1 test |
| Primary ciliary dyskinesia 18 | 1 test |
| Primary ciliary dyskinesia 19 | 1 test |
| Primary ciliary dyskinesia 2 | 1 test |
| Primary ciliary dyskinesia 20 | 1 test |
| Primary ciliary dyskinesia 21 | 1 test |
| Primary ciliary dyskinesia 22 | 1 test |
| Primary ciliary dyskinesia 23 | 1 test |
| Primary ciliary dyskinesia 24 | 1 test |
| Primary ciliary dyskinesia 25 | 1 test |
| Primary ciliary dyskinesia 26 | 1 test |
| Primary ciliary dyskinesia 27 | 1 test |
| Primary ciliary dyskinesia 28 | 1 test |
| Primary ciliary dyskinesia 29 | 1 test |
| Primary ciliary dyskinesia 3 | 2 tests |
| Primary ciliary dyskinesia 30 | 1 test |
| Primary ciliary dyskinesia 32 | 1 test |
| Primary ciliary dyskinesia 33 | 1 test |
| Primary ciliary dyskinesia 34 | 1 test |
| Primary ciliary dyskinesia 35 | 1 test |
| Primary ciliary dyskinesia 5 | 1 test |
| Primary ciliary dyskinesia 6 | 1 test |
| Primary ciliary dyskinesia 7 | 1 test |
| Primary ciliary dyskinesia 9 | 1 test |
| Primary coenzyme Q10 deficiency 8 | 2 tests |
| Primary erythromelalgia | 3 tests |
| Primary failure of tooth eruption | 1 test |
| Primary familial polycythemia due to EPO receptor mutation | 3 tests |
| Primary hyperoxaluria type 3 | 2 tests |
| Primary hyperoxaluria, type I | 4 tests |
| Primary hyperoxaluria, type II | 4 tests |
| Primary hypomagnesemia | 1 test |
| Primary immunodeficiency syndrome due to p14 deficiency | 2 tests |
| Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | 2 tests |
| Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection | 2 tests |
| Primary intraosseous venous malformation | 1 test |
| Primary myelofibrosis | 4 tests |
| Primary open angle glaucoma | 1 test |
| Primrose syndrome | 2 tests |
| Progeroid and marfanoid aspect-lipodystrophy syndrome | 2 tests |
| Progeroid features-hepatocellular carcinoma predisposition syndrome | 2 tests |
| Progesterone resistance | 1 test |
| Progressive bulbar palsy of childhood | 2 tests |
| Progressive demyelinating neuropathy with bilateral striatal necrosis | 1 test |
| Progressive encephalopathy with leukodystrophy due to DECR deficiency | 2 tests |
| Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | 2 tests |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 2 tests |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | 4 tests |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | 4 tests |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | 4 tests |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | 4 tests |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 2 tests |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | 2 tests |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | 4 tests |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | 4 tests |
| Progressive familial heart block type IB | 1 test |
| Progressive familial heart block, type 1A | 4 tests |
| Progressive familial intrahepatic cholestasis type 1 | 2 tests |
| Progressive familial intrahepatic cholestasis type 2 | 2 tests |
| Progressive familial intrahepatic cholestasis type 3 | 4 tests |
| Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome | 2 tests |
| Progressive myoclonic epilepsy type 3 | 2 tests |
| Progressive myoclonic epilepsy type 6 | 2 tests |
| Progressive myoclonic epilepsy type 7 | 2 tests |
| Progressive myoclonic epilepsy type 8 | 2 tests |
| Progressive myoclonic epilepsy type 9 | 2 tests |
| Progressive myositis ossificans | 2 tests |
| Progressive osseous heteroplasia | 2 tests |
| Progressive pseudorheumatoid dysplasia | 4 tests |
| Progressive retinal dystrophy due to retinol transport defect | 2 tests |
| Progressive scapulohumeroperoneal distal myopathy | 2 tests |
| Progressive sclerosing poliodystrophy | 4 tests |
| Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | 2 tests |
| Progressive supranuclear ophthalmoplegia | 2 tests |
| Progressive supranuclear palsy-parkinsonism syndrome | 2 tests |
| Prolactin-producing pituitary gland adenoma | 2 tests |
| Prolidase deficiency | 2 tests |
| Proliferative vitreoretinopathy | 1 test |
| Proline dehydrogenase deficiency | 1 test |
| Properdin deficiency, X-linked | 1 test |
| Propionic acidemia | 6 tests |
| Prostate cancer, hereditary, 1 | 1 test |
| Prostate cancer, hereditary, 13 | 1 test |
| Prostate cancer, hereditary, 2 | 1 test |
| Prostate cancer/brain cancer susceptibility | 1 test |
| Protan defect | 1 test |
| Proteasome-associated autoinflammatory syndrome 1 | 1 test |
| Protein Z deficiency | 1 test |
| Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis | 1 test |
| Proteus syndrome | 1 test |
| Protoporphyria, erythropoietic, 1 | 4 tests |
| Proximal 16p11.2 microdeletion syndrome | 3 tests |
| Proximal myopathy with extrapyramidal signs | 2 tests |
| Proximal symphalangism 1A | 1 test |
| Prune belly syndrome | 2 tests |
| Pseudo von Willebrand disease | 1 test |
| Pseudo-Hurler polydystrophy | 1 test |
| Pseudo-TORCH syndrome 1 | 2 tests |
| Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | 2 tests |
| Pseudoexfoliation glaucoma | 1 test |
| Pseudofolliculitis barbae | 1 test |
| Pseudohyperaldosteronism type 2 | 1 test |
| Pseudohypoaldosteronism type 2B | 1 test |
| Pseudohypoaldosteronism type 2C | 1 test |
| Pseudohypoaldosteronism type 2D | 1 test |
| Pseudohypoaldosteronism type 2E | 1 test |
| Pseudohypoaldosteronism, type IB1, autosomal recessive | 3 tests |
| Pseudohypoparathyroidism | 2 tests |
| Pseudohypoparathyroidism type 1B | 4 tests |
| Pseudohypoparathyroidism type 1C | 2 tests |
| Pseudopseudohypoparathyroidism | 2 tests |
| Pseudoxanthoma elasticum, forme fruste | 2 tests |
| Psoriasis 1, susceptibility to | 1 test |
| Psoriasis 13, susceptibility to | 1 test |
| Psoriasis 15, pustular, susceptibility to | 1 test |
| Psoriasis 2 | 1 test |
| Psoriasis 7, susceptibility to | 1 test |
| Psoriatic arthritis, susceptibility to | 2 tests |
| Psychomotor retardation, epilepsy, and craniofacial dysmorphism | 2 tests |
| Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | 2 tests |
| Ptosis, hereditary congenital, 1 | 1 test |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | 2 tests |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 | 7 tests |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | 1 test |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | 1 test |
| Pulmonary hypertension, neonatal, susceptibility to | 2 tests |
| Pulmonary hypertension, primary, 1 | 8 tests |
| Pulmonary hypertension, primary, 2 | 2 tests |
| Pulmonary hypertension, primary, 3 | 2 tests |
| Pulmonary hypertension, primary, 4 | 2 tests |
| Pulmonary venoocclusive disease 1 | 2 tests |
| Purine-nucleoside phosphorylase deficiency | 2 tests |
| Pyknodysostosis | 2 tests |
| Pyle metaphyseal dysplasia | 1 test |
| Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | 2 tests |
| Pyogenic bacterial infections due to MyD88 deficiency | 2 tests |
| Pyridoxal phosphate-responsive seizures | 2 tests |
| Pyridoxine-dependent epilepsy | 1 test |
| Pyropoikilocytosis, hereditary | 1 test |
| Pyruvate carboxylase deficiency | 2 tests |
| Pyruvate dehydrogenase E1-alpha deficiency | 2 tests |
| Pyruvate dehydrogenase E1-beta deficiency | 2 tests |
| Pyruvate dehydrogenase E2 deficiency | 2 tests |
| Pyruvate dehydrogenase E3 deficiency | 2 tests |
| Pyruvate dehydrogenase E3-binding protein deficiency | 2 tests |
| Pyruvate dehydrogenase phosphatase deficiency | 2 tests |
| Pyruvate kinase deficiency of red cells | 4 tests |
| Pyruvate kinase hyperactivity | 2 tests |
| Quebec platelet disorder | 1 test |
| Question mark ears, isolated | 1 test |
| RAB23-related Carpenter syndrome | 2 tests |
| RCBTB1-related retinopathy | 2 tests |
| RFT1-congenital disorder of glycosylation | 2 tests |
| RIDDLE syndrome | 2 tests |
| RIN2 syndrome | 2 tests |
| Rabson-Mendenhall syndrome | 1 test |
| Radial aplasia-thrombocytopenia syndrome | 1 test |
| Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 | 2 tests |
| Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | 2 tests |
| Rafiq syndrome | 2 tests |
| Rapadilino syndrome | 2 tests |
| Rapp-Hodgkin syndrome | 4 tests |
| Recessive dystrophic epidermolysis bullosa | 10 tests |
| Recombination rate quantitative trait locus 1 | 1 test |
| Recurrent Neisseria infections due to factor D deficiency | 2 tests |
| Recurrent infections associated with rare immunoglobulin isotypes deficiency | 2 tests |
| Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | 2 tests |
| Reis-Bucklers' corneal dystrophy | 1 test |
| Renal carnitine transport defect | 4 tests |
| Renal cell carcinoma, Xp11-associated | 1 test |
| Renal coloboma syndrome | 2 tests |
| Renal cysts and diabetes syndrome | 2 tests |
| Renal dysplasia, cystic, susceptibility to | 2 tests |
| Renal hypodysplasia/aplasia 1 | 2 tests |
| Renal hypodysplasia/aplasia 2 | 2 tests |
| Renal hypomagnesemia 2 | 1 test |
| Renal hypomagnesemia 4 | 1 test |
| Renal hypomagnesemia 5 with ocular involvement | 1 test |
| Renal hypomagnesemia 6 | 1 test |
| Renal tubular acidosis with progressive nerve deafness | 1 test |
| Renal tubular dysgenesis | 9 tests |
| Renal-hepatic-pancreatic dysplasia 1 | 2 tests |
| Renal-hepatic-pancreatic dysplasia 2 | 2 tests |
| Renpenning syndrome | 2 tests |
| Resting heart rate | 2 tests |
| Reticular dysgenesis | 1 test |
| Reticulate acropigmentation of Kitamura | 1 test |
| Retinal arterial tortuosity | 1 test |
| Retinal cone dystrophy 3A | 2 tests |
| Retinal cone dystrophy 4 | 1 test |
| Retinal dystrophy and obesity | 1 test |
| Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies | 2 tests |
| Retinal macular dystrophy type 2 | 1 test |
| Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | 4 tests |
| Retinitis pigmentosa 1 | 2 tests |
| Retinitis pigmentosa 10 | 2 tests |
| Retinitis pigmentosa 11 | 2 tests |
| Retinitis pigmentosa 12 | 2 tests |
| Retinitis pigmentosa 13 | 1 test |
| Retinitis pigmentosa 14 | 1 test |
| Retinitis pigmentosa 17 | 1 test |
| Retinitis pigmentosa 18 | 1 test |
| Retinitis pigmentosa 19 | 2 tests |
| Retinitis pigmentosa 2 | 2 tests |
| Retinitis pigmentosa 20 | 2 tests |
| Retinitis pigmentosa 23 | 1 test |
| Retinitis pigmentosa 25 | 2 tests |
| Retinitis pigmentosa 26 | 1 test |
| Retinitis pigmentosa 27 | 3 tests |
| Retinitis pigmentosa 28 | 1 test |
| Retinitis pigmentosa 3 | 2 tests |
| Retinitis pigmentosa 30 | 1 test |
| Retinitis pigmentosa 31 | 1 test |
| Retinitis pigmentosa 33 | 1 test |
| Retinitis pigmentosa 35 | 1 test |
| Retinitis pigmentosa 36 | 1 test |
| Retinitis pigmentosa 37 | 1 test |
| Retinitis pigmentosa 38 | 1 test |
| Retinitis pigmentosa 39 | 2 tests |
| Retinitis pigmentosa 4 | 2 tests |
| Retinitis pigmentosa 40 | 1 test |
| Retinitis pigmentosa 41 | 1 test |
| Retinitis pigmentosa 42 | 1 test |
| Retinitis pigmentosa 43 | 1 test |
| Retinitis pigmentosa 44 | 1 test |
| Retinitis pigmentosa 45 | 1 test |
| Retinitis pigmentosa 46 | 1 test |
| Retinitis pigmentosa 47 | 1 test |
| Retinitis pigmentosa 48 | 1 test |
| Retinitis pigmentosa 49 | 1 test |
| Retinitis pigmentosa 50 | 4 tests |
| Retinitis pigmentosa 51 | 1 test |
| Retinitis pigmentosa 54 | 1 test |
| Retinitis pigmentosa 55 | 1 test |
| Retinitis pigmentosa 56 | 1 test |
| Retinitis pigmentosa 57 | 1 test |
| Retinitis pigmentosa 58 | 1 test |
| Retinitis pigmentosa 59 | 1 test |
| Retinitis pigmentosa 60 | 1 test |
| Retinitis pigmentosa 61 | 1 test |
| Retinitis pigmentosa 62 | 1 test |
| Retinitis pigmentosa 66 | 1 test |
| Retinitis pigmentosa 67 | 1 test |
| Retinitis pigmentosa 68 | 1 test |
| Retinitis pigmentosa 69 | 1 test |
| Retinitis pigmentosa 7 | 5 tests |
| Retinitis pigmentosa 70 | 1 test |
| Retinitis pigmentosa 71 | 1 test |
| Retinitis pigmentosa 72 | 1 test |
| Retinitis pigmentosa 73 | 1 test |
| Retinitis pigmentosa 74 | 1 test |
| Retinitis pigmentosa 75 | 1 test |
| Retinitis pigmentosa 76 | 2 tests |
| Retinitis pigmentosa 77 | 1 test |
| Retinitis pigmentosa 9 | 1 test |
| Retinitis pigmentosa and erythrocytic microcytosis | 2 tests |
| Retinitis pigmentosa with or without situs inversus | 1 test |
| Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness | 2 tests |
| Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome | 1 test |
| Retinoblastoma | 2 tests |
| Rett syndrome | 12 tests |
| Rett syndrome, congenital variant | 2 tests |
| Revesz syndrome | 2 tests |
| Reynolds syndrome | 2 tests |
| Rh-null, regulator type | 1 test |
| Rhabdoid tumor predisposition syndrome 1 | 2 tests |
| Rhabdoid tumor predisposition syndrome 2 | 1 test |
| Rhabdomyosarcoma, embryonal, 2 | 1 test |
| Rheumatoid arthritis | 8 tests |
| Rhizomelic chondrodysplasia punctata type 1 | 2 tests |
| Rhizomelic chondrodysplasia punctata type 2 | 2 tests |
| Rhizomelic chondrodysplasia punctata type 3 | 2 tests |
| Rhizomelic chondrodysplasia punctata type 5 | 2 tests |
| Richieri Costa-Pereira syndrome | 2 tests |
| Rienhoff syndrome | 2 tests |
| Right atrial isomerism | 2 tests |
| Ring dermoid of cornea | 2 tests |
| Rippling muscle disease 2 | 2 tests |
| Ritscher-Schinzel syndrome 1 | 2 tests |
| Ritscher-Schinzel syndrome 2 | 2 tests |
| Robinow-Sorauf syndrome | 5 tests |
| Roifman syndrome | 2 tests |
| Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | 2 tests |
| Rothmund-Thomson syndrome type 2 | 2 tests |
| Rothmund-Thomson syndrome, type 3 | 2 tests |
| Rotor syndrome | 4 tests |
| Roussy-Lévy syndrome | 8 tests |
| Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | 2 tests |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 4 tests |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 4 tests |
| SCOTT SYNDROME | 2 tests |
| SERKAL syndrome | 6 tests |
| SHORT syndrome | 2 tests |
| SHOX-related short stature | 2 tests |
| SIN3A-related intellectual disability syndrome due to a point mutation | 2 tests |
| SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES | 4 tests |
| SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | 6 tests |
| SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR | 3 tests |
| SKIN/HAIR/EYE PIGMENTATION 6, BLOND/BROWN HAIR | 2 tests |
| SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN | 1 test |
| SKIN/HAIR/EYE PIGMENTATION 9, DARK/LIGHT HAIR | 2 tests |
| SLC35A1-congenital disorder of glycosylation | 2 tests |
| SLC35A2-congenital disorder of glycosylation | 2 tests |
| SLC39A8-CDG | 2 tests |
| SRD5A3-congenital disorder of glycosylation | 2 tests |
| SSR4-congenital disorder of glycosylation | 2 tests |
| STAT3-related early-onset multisystem autoimmune disease | 1 test |
| STING-associated vasculopathy with onset in infancy | 1 test |
| STT3A-congenital disorder of glycosylation | 2 tests |
| STT3B-congenital disorder of glycosylation | 2 tests |
| SUDDEN INFANT DEATH SYNDROME | 4 tests |
| Saccharopinuria | 1 test |
| Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome | 2 tests |
| Sacral defect with anterior meningocele | 3 tests |
| Saethre-Chotzen syndrome | 10 tests |
| Saldino-Mainzer syndrome | 2 tests |
| Salla disease | 3 tests |
| Sandhoff disease | 2 tests |
| Sarcoidosis, susceptibility to, 2 | 1 test |
| Sarcosine dehydrogenase deficiency | 1 test |
| Sarcotubular myopathy | 1 test |
| Scalp-ear-nipple syndrome | 1 test |
| Scapuloperoneal spinal muscular atrophy | 1 test |
| SchC6pf-Schulz-Passarge syndrome | 2 tests |
| Schaaf-Yang syndrome | 4 tests |
| Schimke immuno-osseous dysplasia | 2 tests |
| Schinzel phocomelia syndrome | 2 tests |
| Schinzel-Giedion syndrome | 2 tests |
| Schizencephaly | 10 tests |
| Schizophrenia | 13 tests |
| Schizophrenia 15 | 1 test |
| Schizophrenia 18 | 1 test |
| Schizophrenia 4 | 1 test |
| Schizophrenia 6 | 1 test |
| Schizophrenia 9 | 1 test |
| Schneckenbecken dysplasia | 2 tests |
| Schnyder crystalline corneal dystrophy | 1 test |
| Schuurs-Hoeijmakers syndrome | 2 tests |
| Schwannomatosis 1 | 3 tests |
| Schwannomatosis 2 | 2 tests |
| Schwartz-Jampel syndrome | 2 tests |
| Sclerosteosis 1 | 1 test |
| Sclerosteosis 2 | 1 test |
| Sea-blue histiocyte syndrome | 1 test |
| Seborrhea-like dermatitis with psoriasiform elements | 1 test |
| Seborrheic keratosis | 1 test |
| Seckel syndrome 1 | 4 tests |
| Seckel syndrome 10 | 2 tests |
| Seckel syndrome 2 | 2 tests |
| Seckel syndrome 4 | 4 tests |
| Seckel syndrome 5 | 2 tests |
| Seckel syndrome 6 | 2 tests |
| Seckel syndrome 7 | 2 tests |
| Seckel syndrome 8 | 2 tests |
| Seckel syndrome 9 | 2 tests |
| Seizures, benign familial infantile, 2 | 1 test |
| Seizures, benign familial infantile, 3 | 1 test |
| Seizures, benign familial infantile, 5 | 1 test |
| Seizures, benign familial neonatal, 1 | 4 tests |
| Seizures, benign familial neonatal, 2 | 2 tests |
| Seizures-scoliosis-macrocephaly syndrome | 4 tests |
| Selective pituitary resistance to thyroid hormone | 1 test |
| Sengers syndrome | 2 tests |
| Senior-Loken syndrome 1 | 4 tests |
| Senior-Loken syndrome 4 | 1 test |
| Senior-Loken syndrome 5 | 2 tests |
| Senior-Loken syndrome 6 | 4 tests |
| Senior-Loken syndrome 7 | 2 tests |
| Senior-Loken syndrome 8 | 2 tests |
| Senior-Loken syndrome 9 | 2 tests |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 4 tests |
| Septo-optic dysplasia sequence | 8 tests |
| Sessile serrated polyposis cancer syndrome | 1 test |
| Severe X-linked mitochondrial encephalomyopathy | 2 tests |
| Severe X-linked myotubular myopathy | 4 tests |
| Severe combined immunodeficiency due to CARD11 deficiency | 2 tests |
| Severe combined immunodeficiency due to CORO1A deficiency | 2 tests |
| Severe combined immunodeficiency due to CTPS1 deficiency | 2 tests |
| Severe combined immunodeficiency due to DCLRE1C deficiency | 2 tests |
| Severe combined immunodeficiency due to DNA-PKcs deficiency | 2 tests |
| Severe combined immunodeficiency due to IKK2 deficiency | 2 tests |
| Severe combined immunodeficiency due to LCK deficiency | 2 tests |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 4 tests |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | 4 tests |
| Severe congenital hypochromic anemia with ringed sideroblasts | 1 test |
| Severe dermatitis-multiple allergies-metabolic wasting syndrome | 1 test |
| Severe early-childhood-onset retinal dystrophy | 7 tests |
| Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | 1 test |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 2 tests |
| Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | 2 tests |
| Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | 2 tests |
| Severe intellectual disability-progressive spastic diplegia syndrome | 2 tests |
| Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | 2 tests |
| Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | 2 tests |
| Severe myoclonic epilepsy in infancy | 6 tests |
| Severe neonatal-onset encephalopathy with microcephaly | 4 tests |
| Severe neurodegenerative syndrome with lipodystrophy | 2 tests |
| Shashi-Pena syndrome | 3 tests |
| Short QT syndrome type 1 | 2 tests |
| Short QT syndrome type 2 | 1 test |
| Short QT syndrome type 3 | 2 tests |
| Short stature due to growth hormone qualitative anomaly | 2 tests |
| Short stature due to growth hormone secretagogue receptor deficiency | 1 test |
| Short stature due to partial GHR deficiency | 1 test |
| Short stature due to primary acid-labile subunit deficiency | 1 test |
| Short stature with nonspecific skeletal abnormalities | 2 tests |
| Short stature, microcephaly, and endocrine dysfunction | 2 tests |
| Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome | 2 tests |
| Short stature-brachydactyly-obesity-global developmental delay syndrome | 2 tests |
| Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | 1 test |
| Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome | 1 test |
| Short stature-pituitary and cerebellar defects-small sella turcica syndrome | 2 tests |
| Short-rib thoracic dysplasia 10 with or without polydactyly | 2 tests |
| Short-rib thoracic dysplasia 11 with or without polydactyly | 2 tests |
| Short-rib thoracic dysplasia 13 with or without polydactyly | 2 tests |
| Short-rib thoracic dysplasia 14 with polydactyly | 2 tests |
| Short-rib thoracic dysplasia 15 with polydactyly | 2 tests |
| Short-rib thoracic dysplasia 16 with or without polydactyly | 2 tests |
| Short-rib thoracic dysplasia 6 with or without polydactyly | 2 tests |
| Short-rib thoracic dysplasia 7 with or without polydactyly | 2 tests |
| Short-rib thoracic dysplasia 8 with or without polydactyly | 2 tests |
| Shprintzen-Goldberg syndrome | 2 tests |
| Shwachman-Diamond syndrome 1 | 2 tests |
| Sialic acid storage disease, severe infantile type | 1 test |
| Sialidosis type 2 | 5 tests |
| Sialuria | 2 tests |
| Sick sinus syndrome 1 | 2 tests |
| Sick sinus syndrome 2, autosomal dominant | 1 test |
| Sick sinus syndrome 3, susceptibility to | 1 test |
| Sideroblastic anemia 2 | 2 tests |
| Sideroblastic anemia 3 | 2 tests |
| Sifrim-Hitz-Weiss syndrome | 2 tests |
| Silver-Russell syndrome 1 | 6 tests |
| Silver-Russell syndrome 3 | 4 tests |
| Simpson-Golabi-Behmel syndrome type 1 | 4 tests |
| Simpson-Golabi-Behmel syndrome type 2 | 2 tests |
| Singleton-Merten syndrome 1 | 2 tests |
| Singleton-Merten syndrome 2 | 2 tests |
| Sinoatrial node dysfunction and deafness | 1 test |
| Sjögren-Larsson syndrome | 2 tests |
| Skeletal defects, genital hypoplasia, and intellectual disability | 3 tests |
| Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome | 1 test |
| Skin creases, congenital symmetric circumferential, 2 | 3 tests |
| Skin/hair/eye pigmentation, variation in, 10 | 1 test |
| Skin/hair/eye pigmentation, variation in, 11 | 1 test |
| Skin/hair/eye pigmentation, variation in, 2 | 3 tests |
| Skin/hair/eye pigmentation, variation in, 4 | 2 tests |
| Skin/hair/eye pigmentation, variation in, 8 | 1 test |
| Slow acetylator due to N-acetyltransferase enzyme variant | 1 test |
| Small cell lung carcinoma | 1 test |
| Smith-Lemli-Opitz syndrome | 4 tests |
| Smith-Magenis syndrome | 2 tests |
| Smith-McCort dysplasia 1 | 2 tests |
| Smith-McCort dysplasia 2 | 2 tests |
| Smoking as a quantitative trait locus 3 | 3 tests |
| Sneddon syndrome | 2 tests |
| Snowflake vitreoretinal degeneration | 1 test |
| Solitary median maxillary central incisor syndrome | 4 tests |
| Soluble interleukin-6 receptor, serum level of, quantitative trait locus | 1 test |
| Somatotroph adenoma | 2 tests |
| Sorsby fundus dystrophy | 1 test |
| Sotos syndrome | 4 tests |
| Southeast Asian ovalocytosis | 1 test |
| Spastic ataxia 1 | 1 test |
| Spastic ataxia 2 | 1 test |
| Spastic ataxia 3 | 1 test |
| Spastic ataxia 4 | 1 test |
| Spastic ataxia 5 | 1 test |
| Spastic paraplegia 52, autosomal recessive | 1 test |
| Spastic paraplegia, intellectual disability, nystagmus, and obesity | 1 test |
| Spastic paraplegia, optic atropy, and neuropathy | 1 test |
| Spastic paraplegia-severe developmental delay-epilepsy syndrome | 2 tests |
| Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | 2 tests |
| Spasticity-ataxia-gait anomalies syndrome | 1 test |
| Specific granule deficiency 1 | 1 test |
| Specific language impairment 5 | 1 test |
| Spermatogenic failure 10 | 1 test |
| Spermatogenic failure 11 | 1 test |
| Spermatogenic failure 12 | 1 test |
| Spermatogenic failure 13 | 1 test |
| Spermatogenic failure 14 | 1 test |
| Spermatogenic failure 15 | 1 test |
| Spermatogenic failure 16 | 2 tests |
| Spermatogenic failure 17 | 1 test |
| Spermatogenic failure 3 | 1 test |
| Spermatogenic failure 4 | 2 tests |
| Spermatogenic failure 7 | 1 test |
| Spermatogenic failure 8 | 2 tests |
| Spermatogenic failure 9 | 1 test |
| Spermatogenic failure, X-linked, 2 | 1 test |
| Spermatogenic failure, Y-linked, 2 | 1 test |
| Sphingolipid activator protein 1 deficiency | 2 tests |
| Spinal muscular atrophy with congenital bone fractures 1 | 2 tests |
| Spinal muscular atrophy with congenital bone fractures 2 | 2 tests |
| Spinal muscular atrophy, type II | 4 tests |
| Spinal muscular atrophy, type IV | 4 tests |
| Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | 2 tests |
| Spinocerebellar ataxia 43 | 1 test |
| Spinocerebellar ataxia 7 | 1 test |
| Spinocerebellar ataxia type 1 | 1 test |
| Spinocerebellar ataxia type 10 | 1 test |
| Spinocerebellar ataxia type 11 | 1 test |
| Spinocerebellar ataxia type 12 | 1 test |
| Spinocerebellar ataxia type 13 | 1 test |
| Spinocerebellar ataxia type 14 | 1 test |
| Spinocerebellar ataxia type 15/16 | 1 test |
| Spinocerebellar ataxia type 17 | 1 test |
| Spinocerebellar ataxia type 19/22 | 1 test |
| Spinocerebellar ataxia type 2 | 2 tests |
| Spinocerebellar ataxia type 20 | 1 test |
| Spinocerebellar ataxia type 21 | 1 test |
| Spinocerebellar ataxia type 23 | 2 tests |
| Spinocerebellar ataxia type 26 | 1 test |
| Spinocerebellar ataxia type 27 | 1 test |
| Spinocerebellar ataxia type 28 | 1 test |
| Spinocerebellar ataxia type 29 | 1 test |
| Spinocerebellar ataxia type 34 | 1 test |
| Spinocerebellar ataxia type 35 | 1 test |
| Spinocerebellar ataxia type 36 | 1 test |
| Spinocerebellar ataxia type 38 | 1 test |
| Spinocerebellar ataxia type 40 | 1 test |
| Spinocerebellar ataxia type 41 | 1 test |
| Spinocerebellar ataxia type 42 | 1 test |
| Spinocerebellar ataxia type 5 | 1 test |
| Spinocerebellar ataxia type 6 | 2 tests |
| Spinocerebellar ataxia type 8 | 1 test |
| Spinocerebellar ataxia, autosomal recessive 22 | 1 test |
| Spinocerebellar ataxia, autosomal recessive 23 | 2 tests |
| Spinocerebellar ataxia, autosomal recessive 24 | 1 test |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | 1 test |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2 tests |
| Split hand-foot malformation 1 with sensorineural hearing loss | 2 tests |
| Split hand-foot malformation 3 | 2 tests |
| Split hand-foot malformation 4 | 2 tests |
| Split hand-foot malformation 6 | 2 tests |
| Split-foot malformation-mesoaxial polydactyly syndrome | 2 tests |
| Spondylo-megaepiphyseal-metaphyseal dysplasia | 2 tests |
| Spondylo-ocular syndrome | 2 tests |
| Spondylocarpotarsal synostosis syndrome | 4 tests |
| Spondylocostal dysostosis 1, autosomal recessive | 2 tests |
| Spondylocostal dysostosis 2, autosomal recessive | 2 tests |
| Spondylocostal dysostosis 3, autosomal recessive | 2 tests |
| Spondylocostal dysostosis 4, autosomal recessive | 2 tests |
| Spondylocostal dysostosis 5 | 2 tests |
| Spondylocostal dysostosis 6, autosomal recessive | 2 tests |
| Spondyloenchondrodysplasia with immune dysregulation | 2 tests |
| Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | 2 tests |
| Spondyloepimetaphyseal dysplasia with multiple dislocations | 2 tests |
| Spondyloepimetaphyseal dysplasia, Genevieve type | 2 tests |
| Spondyloepimetaphyseal dysplasia, Maroteaux type | 2 tests |
| Spondyloepimetaphyseal dysplasia, Missouri type | 4 tests |
| Spondyloepimetaphyseal dysplasia, PAPSS2 type | 1 test |
| Spondyloepimetaphyseal dysplasia, aggrecan type | 2 tests |
| Spondyloepimetaphyseal dysplasia, matrilin-3 type | 2 tests |
| Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome | 2 tests |
| Spondyloepiphyseal dysplasia congenita | 6 tests |
| Spondyloepiphyseal dysplasia tarda | 2 tests |
| Spondyloepiphyseal dysplasia with congenital joint dislocations | 2 tests |
| Spondyloepiphyseal dysplasia with metatarsal shortening | 4 tests |
| Spondyloepiphyseal dysplasia, Kimberley type | 2 tests |
| Spondyloepiphyseal dysplasia, Stanescu type | 4 tests |
| Spondylometaphyseal dysplasia | 4 tests |
| Spondylometaphyseal dysplasia, Sedaghatian type | 2 tests |
| Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | 2 tests |
| Spondyloperipheral dysplasia | 4 tests |
| Spongiform encephalopathy with neuropsychiatric features | 2 tests |
| Spongy degeneration of central nervous system | 4 tests |
| Squamous cell carcinoma of the head and neck | 3 tests |
| Stapes ankylosis with broad thumbs and toes | 1 test |
| Stargardt disease 3 | 1 test |
| Stargardt disease 4 | 1 test |
| Steatocystoma multiplex | 1 test |
| Steel syndrome | 2 tests |
| Steinert myotonic dystrophy syndrome | 1 test |
| Sterile multifocal osteomyelitis with periostitis and pustulosis | 2 tests |
| Sterol carrier protein 2 deficiency | 1 test |
| Stickler syndrome type 1 | 4 tests |
| Stickler syndrome type 2 | 4 tests |
| Stickler syndrome, type 4 | 2 tests |
| Stickler syndrome, type 5 | 2 tests |
| Stickler syndrome, type I, nonsyndromic ocular | 4 tests |
| Stiff skin syndrome | 4 tests |
| Stormorken syndrome | 2 tests |
| Striatal degeneration, autosomal dominant 2 | 2 tests |
| Striatonigral degeneration, childhood-onset | 3 tests |
| Stroke, susceptibility to, 1 | 1 test |
| Stromme syndrome | 2 tests |
| Sturge-Weber syndrome | 1 test |
| Stuttering, familial persistent, 1 | 1 test |
| Stuve-Wiedemann syndrome | 2 tests |
| Succinate-semialdehyde dehydrogenase deficiency | 2 tests |
| Succinyl-CoA acetoacetate transferase deficiency | 2 tests |
| Sucrase-isomaltase deficiency | 2 tests |
| Sudden infant death-dysgenesis of the testes syndrome | 2 tests |
| Sulfite oxidase deficiency | 2 tests |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | 2 tests |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B | 2 tests |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C | 2 tests |
| Supravalvar aortic stenosis | 1 test |
| Surfactant metabolism dysfunction, pulmonary, 1 | 2 tests |
| Surfactant metabolism dysfunction, pulmonary, 2 | 2 tests |
| Surfactant metabolism dysfunction, pulmonary, 4 | 2 tests |
| Surfactant metabolism dysfunction, pulmonary, 5 | 2 tests |
| Susceptibility to HIV infection | 17 tests |
| Susceptibility to angioedema induced by ACE inhibitors | 1 test |
| Susceptibility to bulimia nervosa | 1 test |
| Susceptibility to mononeuropathy of the median nerve, mild | 2 tests |
| Susceptibility to respiratory infections associated with CD8alpha chain mutation | 2 tests |
| Susceptibility to severe cutaneous adverse reaction | 7 tests |
| Symmetrical dyschromatosis of extremities | 1 test |
| Symphalangism, proximal, 1B | 1 test |
| Symphalangism-brachydactyly syndrome | 1 test |
| Syndactyly type 1 | 2 tests |
| Syndactyly type 4 | 1 test |
| Syndactyly type 5 | 2 tests |
| Syndactyly-telecanthus-anogenital and renal malformations syndrome | 2 tests |
| Syndromic X-linked intellectual disability 14 | 2 tests |
| Syndromic X-linked intellectual disability 34 | 2 tests |
| Syndromic X-linked intellectual disability 94 | 2 tests |
| Syndromic X-linked intellectual disability Claes-Jensen type | 2 tests |
| Syndromic X-linked intellectual disability Hedera type | 2 tests |
| Syndromic X-linked intellectual disability Lubs type | 5 tests |
| Syndromic X-linked intellectual disability Najm type | 4 tests |
| Syndromic X-linked intellectual disability Nascimento type | 2 tests |
| Syndromic X-linked intellectual disability Raymond type | 2 tests |
| Syndromic X-linked intellectual disability Siderius type | 2 tests |
| Syndromic X-linked intellectual disability Snyder type | 2 tests |
| Syndromic microphthalmia type 5 | 2 tests |
| Syndromic multisystem autoimmune disease due to ITCH deficiency | 1 test |
| Synovial sarcoma | 2 tests |
| Synpolydactyly type 1 | 2 tests |
| Synpolydactyly type 2 | 1 test |
| Systemic lupus erythematosus | 7 tests |
| Systemic lupus erythematosus, susceptibility to, 1 | 2 tests |
| Systemic lupus erythematosus, susceptibility to, 10 | 1 test |
| Systemic lupus erythematosus, susceptibility to, 2 | 1 test |
| Systemic lupus erythematosus, susceptibility to, 6 | 1 test |
| Systemic lupus erythematosus, susceptibility to, 9 | 1 test |
| Systemic-onset juvenile idiopathic arthritis | 2 tests |
| T-B+ severe combined immunodeficiency due to JAK3 deficiency | 2 tests |
| T-cell immunodeficiency, congenital alopecia, and nail dystrophy | 2 tests |
| TARP syndrome | 2 tests |
| TCF12-related craniosynostosis | 2 tests |
| TCR-alpha-beta-positive T-cell deficiency | 2 tests |
| TELO2-related intellectual disability-neurodevelopmental disorder | 3 tests |
| TFRC-related combined immunodeficiency | 2 tests |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | 2 tests |
| TMEM165-congenital disorder of glycosylation | 2 tests |
| TMEM199-CDG | 2 tests |
| TNF receptor-associated periodic fever syndrome (TRAPS) | 1 test |
| TWIST1-related craniosynostosis | 4 tests |
| Tall stature-scoliosis-macrodactyly of the great toes syndrome | 2 tests |
| Tangier disease | 1 test |
| Tarsal-carpal coalition syndrome | 1 test |
| Tatton-Brown-Rahman overgrowth syndrome | 2 tests |
| Tay-Sachs disease | 10 tests |
| Tay-Sachs disease, variant AB | 2 tests |
| Telangiectasia, hereditary hemorrhagic, type 1 | 2 tests |
| Telangiectasia, hereditary hemorrhagic, type 2 | 2 tests |
| Telangiectasia, hereditary hemorrhagic, type 5 | 1 test |
| Temple-Baraitser syndrome | 2 tests |
| Temtamy preaxial brachydactyly syndrome | 1 test |
| Temtamy syndrome | 2 tests |
| Tenorio syndrome | 3 tests |
| Terminal osseous dysplasia-pigmentary defects syndrome | 2 tests |
| Testicular anomalies with or without congenital heart disease | 2 tests |
| Testosterone 17-beta-dehydrogenase deficiency | 2 tests |
| Tetraamelia syndrome 1 | 2 tests |
| Tetralogy of Fallot | 20 tests |
| Thanatophoric dysplasia type 1 | 2 tests |
| Thanatophoric dysplasia, type 2 | 2 tests |
| Thiel-Behnke corneal dystrophy | 1 test |
| Thiopurine S-methyltransferase deficiency | 2 tests |
| Thiopurines, poor metabolism of, 2 | 1 test |
| Thiourea tasting | 1 test |
| Thrombocythemia 1 | 3 tests |
| Thrombocythemia 2 | 1 test |
| Thrombocythemia 3 | 1 test |
| Thrombocytopenia 1 | 2 tests |
| Thrombocytopenia 2 | 1 test |
| Thrombocytopenia 4 | 1 test |
| Thrombocytopenia 5 | 1 test |
| Thrombocytopenia 6 | 1 test |
| Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | 1 test |
| Thrombomodulin-related bleeding disorder | 1 test |
| Thrombophilia due to activated protein C resistance | 4 tests |
| Thrombophilia due to protein C deficiency, autosomal dominant | 2 tests |
| Thrombophilia due to protein C deficiency, autosomal recessive | 2 tests |
| Thrombophilia due to protein S deficiency, autosomal dominant | 2 tests |
| Thrombophilia due to protein S deficiency, autosomal recessive | 2 tests |
| Thrombophilia due to thrombin defect | 5 tests |
| Thrombophilia, X-linked, due to factor 9 defect | 4 tests |
| Thrombophilia, familial, due to decreased release of tissue plasminogen activator | 2 tests |
| Thromboxane synthetase deficiency | 1 test |
| Thyroglobulin synthesis defect | 1 test |
| Thyroid cancer, nonmedullary, 1 | 2 tests |
| Thyroid cancer, nonmedullary, 2 | 4 tests |
| Thyroid cancer, nonmedullary, 4 | 2 tests |
| Thyroid cancer, nonmedullary, 5 | 1 test |
| Thyroid dyshormonogenesis 1 | 1 test |
| Thyroid dyshormonogenesis 6 | 1 test |
| Thyroid hormone metabolism, abnormal 1 | 1 test |
| Thyroid hormone resistance, generalized, autosomal dominant | 1 test |
| Thyroid hormone resistance, generalized, autosomal recessive | 1 test |
| Thyrotoxic periodic paralysis, susceptibility to, 1 | 2 tests |
| Thyrotoxic periodic paralysis, susceptibility to, 2 | 1 test |
| Tibia, hypoplasia or aplasia of, with polydactyly | 2 tests |
| Tibial muscular dystrophy | 2 tests |
| Tietz syndrome | 2 tests |
| Timothy syndrome | 1 test |
| Tobacco addiction, susceptibility to | 7 tests |
| Tooth agenesis, selective, 1 | 1 test |
| Tooth agenesis, selective, 3 | 1 test |
| Tooth agenesis, selective, 4 | 1 test |
| Tooth agenesis, selective, 7 | 1 test |
| Tooth agenesis, selective, 8 | 1 test |
| Tooth agenesis, selective, 9 | 1 test |
| Tooth agenesis, selective, X-linked, 1 | 2 tests |
| Torsion dystonia 2 | 1 test |
| Torsion dystonia 4 | 1 test |
| Torsion dystonia 6 | 2 tests |
| Townes-Brocks syndrome 1 | 8 tests |
| Transcobalamin II deficiency | 2 tests |
| Transferrin serum level quantitative trait locus 2 | 2 tests |
| Transient infantile hypertriglyceridemia and hepatosteatosis | 1 test |
| Transketolase deficiency | 3 tests |
| Transposition of the great arteries, dextro-looped | 2 tests |
| Treacher Collins syndrome 1 | 4 tests |
| Treacher Collins syndrome 2 | 2 tests |
| Treacher Collins syndrome 3 | 2 tests |
| Tremor, hereditary essential, 1 | 1 test |
| Tremor, hereditary essential, 4 | 1 test |
| Tremor, hereditary essential, 5 | 2 tests |
| Tricho-dento-osseous syndrome | 2 tests |
| Trichohepatoenteric syndrome 1 | 1 test |
| Trichohepatoenteric syndrome 2 | 1 test |
| Trichomegaly | 1 test |
| Trichomegaly-retina pigmentary degeneration-dwarfism syndrome | 2 tests |
| Trichorhinophalangeal dysplasia type I | 4 tests |
| Trichorhinophalangeal syndrome, type III | 4 tests |
| Trichothiodystrophy 1, photosensitive | 1 test |
| Trichothiodystrophy 2, photosensitive | 1 test |
| Trichothiodystrophy 3, photosensitive | 1 test |
| Trichothiodystrophy 4, nonphotosensitive | 1 test |
| Trichothiodystrophy 5, nonphotosensitive | 1 test |
| Trichothiodystrophy 6, nonphotosensitive | 1 test |
| Trichotillomania | 1 test |
| Triglyceride storage disease with ichthyosis | 2 tests |
| Trigonocephaly 1 | 4 tests |
| Trigonocephaly 2 | 2 tests |
| Triosephosphate isomerase deficiency | 2 tests |
| Tropical pancreatitis | 4 tests |
| Troyer syndrome | 1 test |
| Trypsinogen deficiency | 2 tests |
| Tuberous sclerosis 1 | 4 tests |
| Tuberous sclerosis 2 | 5 tests |
| Tubulointerstitial kidney disease, autosomal dominant, 2 | 2 tests |
| Tumor predisposition syndrome 3 | 2 tests |
| Tumoral calcinosis, hyperphosphatemic, familial, 1 | 5 tests |
| Type 1 diabetes mellitus 10 | 1 test |
| Type 1 diabetes mellitus 12 | 1 test |
| Type 1 diabetes mellitus 2 | 1 test |
| Type 1 diabetes mellitus 20 | 2 tests |
| Type 1 diabetes mellitus 5 | 1 test |
| Type 2 diabetes mellitus | 37 tests |
| Type A2 brachydactyly | 3 tests |
| Type I complement component 8 deficiency | 2 tests |
| Type II complement component 8 deficiency | 2 tests |
| Tyrosinase-negative oculocutaneous albinism | 2 tests |
| Tyrosinase-positive oculocutaneous albinism | 3 tests |
| Tyrosinemia type I | 2 tests |
| Tyrosinemia type II | 2 tests |
| Tyrosinemia type III | 2 tests |
| UDPglucose-4-epimerase deficiency | 2 tests |
| UV-sensitive syndrome 1 | 1 test |
| UV-sensitive syndrome 2 | 1 test |
| UV-sensitive syndrome 3 | 1 test |
| Ullrich congenital muscular dystrophy 1A | 4 tests |
| Ullrich congenital muscular dystrophy 2 | 3 tests |
| Ulnar-mammary syndrome | 2 tests |
| Unverricht-Lundborg syndrome | 2 tests |
| Upshaw-Schulman syndrome | 1 test |
| Uric acid concentration, serum, quantitative trait locus 1 | 1 test |
| Uric acid concentration, serum, quantitative trait locus 4 | 2 tests |
| Urocanate hydratase deficiency | 2 tests |
| Urofacial syndrome 2 | 2 tests |
| Urofacial syndrome type 1 | 2 tests |
| Usher syndrome type 1 | 1 test |
| Usher syndrome type 1C | 1 test |
| Usher syndrome type 1D | 4 tests |
| Usher syndrome type 1F | 2 tests |
| Usher syndrome type 1G | 1 test |
| Usher syndrome type 1J | 1 test |
| Usher syndrome type 2A | 3 tests |
| Usher syndrome type 2C | 3 tests |
| Usher syndrome type 2D | 1 test |
| Usher syndrome type 3 | 1 test |
| Usher syndrome type 3B | 1 test |
| Uterine leiomyoma | 1 test |
| Uveal coloboma-cleft lip and palate-intellectual disability | 3 tests |
| VACTERL association, X-linked, with or without hydrocephalus | 4 tests |
| VACTERL with hydrocephalus | 6 tests |
| Van Buchem disease type 2 | 2 tests |
| Van Maldergem syndrome 1 | 2 tests |
| Van Maldergem syndrome 2 | 1 test |
| Van den Ende-Gupta syndrome | 2 tests |
| Van der Woude syndrome 1 | 4 tests |
| Van der Woude syndrome 2 | 2 tests |
| Vanishing white matter disease | 12 tests |
| Variegate porphyria | 8 tests |
| Vas deferens, congenital bilateral aplasia of, X-linked | 1 test |
| Vasculitis due to ADA2 deficiency | 1 test |
| Velocardiofacial syndrome | 4 tests |
| Ventricular fibrillation, paroxysmal familial, 2 | 1 test |
| Ventricular septal defect 1 | 4 tests |
| Ventricular septal defect 2 | 2 tests |
| Ventricular septal defect 3 | 4 tests |
| Ventriculomegaly-cystic kidney disease | 2 tests |
| Very long chain acyl-CoA dehydrogenase deficiency | 4 tests |
| Vesicoureteral reflux 2 | 1 test |
| Vesicoureteral reflux 3 | 1 test |
| Vesicoureteral reflux 8 | 2 tests |
| Vici syndrome | 2 tests |
| Visceral myopathy 1 | 1 test |
| Vitamin D hydroxylation-deficient rickets, type 1B | 1 test |
| Vitamin D-dependent rickets type II with alopecia | 1 test |
| Vitamin D-dependent rickets, type 1 | 2 tests |
| Vitamin K-dependent clotting factors, combined deficiency of, type 1 | 1 test |
| Vitamin K-dependent clotting factors, combined deficiency of, type 2 | 1 test |
| Vitamin b12 plasma level quantitative trait locus 1 | 3 tests |
| Vitelliform macular dystrophy 2 | 2 tests |
| Vitelliform macular dystrophy 4 | 1 test |
| Vitelliform macular dystrophy 5 | 1 test |
| Vitiligo-associated multiple autoimmune disease susceptibility 1 | 1 test |
| Von Hippel-Lindau syndrome | 3 tests |
| Waardenburg syndrome type 1 | 4 tests |
| Waardenburg syndrome type 2A | 4 tests |
| Waardenburg syndrome type 2D | 4 tests |
| Waardenburg syndrome type 2E | 2 tests |
| Waardenburg syndrome type 3 | 4 tests |
| Waardenburg syndrome type 4A | 4 tests |
| Waardenburg syndrome type 4B | 4 tests |
| Waardenburg syndrome type 4C | 2 tests |
| Wagner syndrome | 2 tests |
| Warburg micro syndrome 1 | 2 tests |
| Warburg micro syndrome 2 | 2 tests |
| Warburg micro syndrome 3 | 2 tests |
| Warburg micro syndrome 4 | 2 tests |
| Warfarin response | 11 tests |
| Warsaw breakage syndrome | 2 tests |
| Warts, hypogammaglobulinemia, infections, and myelokathexis | 6 tests |
| Weaver syndrome | 2 tests |
| Webb-Dattani syndrome | 2 tests |
| Weill-Marchesani 4 syndrome, recessive | 2 tests |
| Weill-Marchesani syndrome 1 | 2 tests |
| Weill-Marchesani syndrome 2, dominant | 4 tests |
| Weill-Marchesani syndrome 3 | 2 tests |
| Welander distal myopathy | 2 tests |
| Werdnig-Hoffmann disease | 4 tests |
| Werner syndrome | 2 tests |
| West Nile virus, susceptibility to | 2 tests |
| White sponge nevus 1 | 1 test |
| White sponge nevus 2 | 1 test |
| Wieacker-Wolff syndrome | 2 tests |
| Wiedemann-Steiner syndrome | 4 tests |
| Williams syndrome | 4 tests |
| Wilms tumor 1 | 3 tests |
| Wilms tumor 2 | 2 tests |
| Wilms tumor 5 | 1 test |
| Wilms tumor 6 | 2 tests |
| Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome | 2 tests |
| Wilson disease | 2 tests |
| Wilson-Turner syndrome | 1 test |
| Wiskott-Aldrich syndrome | 2 tests |
| Wiskott-Aldrich syndrome 2 | 2 tests |
| Wolcott-Rallison dysplasia | 2 tests |
| Wolff-Parkinson-White pattern | 1 test |
| Wolfram syndrome 1 | 2 tests |
| Wolfram syndrome 2 | 1 test |
| Wolfram-like syndrome | 2 tests |
| Woodhouse-Sakati syndrome | 2 tests |
| Woolly hair-skin fragility syndrome | 4 tests |
| Wooly hair-palmoplantar keratoderma syndrome | 1 test |
| Worth disease | 6 tests |
| Wrinkly skin syndrome | 1 test |
| X inactivation, familial skewed, 1 | 1 test |
| X-linked Alport syndrome | 4 tests |
| X-linked Emery-Dreifuss muscular dystrophy | 1 test |
| X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency | 2 tests |
| X-linked Opitz G/BBB syndrome | 4 tests |
| X-linked acrogigantism due to Xq26 microduplication | 2 tests |
| X-linked agammaglobulinemia | 2 tests |
| X-linked agammaglobulinemia with growth hormone deficiency | 6 tests |
| X-linked central congenital hypothyroidism with late-onset testicular enlargement | 1 test |
| X-linked chondrodysplasia punctata 1 | 2 tests |
| X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome | 1 test |
| X-linked complicated corpus callosum dysgenesis | 2 tests |
| X-linked cone-rod dystrophy 1 | 2 tests |
| X-linked cone-rod dystrophy 3 | 1 test |
| X-linked distal spinal muscular atrophy type 3 | 4 tests |
| X-linked dominant chondrodysplasia, Chassaing-Lacombe type | 2 tests |
| X-linked dyserythropoetic anemia with abnormal platelets and neutropenia | 2 tests |
| X-linked dystonia-parkinsonism | 1 test |
| X-linked erythropoietic protoporphyria | 2 tests |
| X-linked hydrocephalus syndrome | 6 tests |
| X-linked ichthyosis with steryl-sulfatase deficiency | 4 tests |
| X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | 2 tests |
| X-linked intellectual disability Cabezas type | 2 tests |
| X-linked intellectual disability with marfanoid habitus | 3 tests |
| X-linked intellectual disability, Cantagrel type | 2 tests |
| X-linked intellectual disability, Stocco dos Santos type | 2 tests |
| X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome | 2 tests |
| X-linked intellectual disability-cerebellar hypoplasia syndrome | 2 tests |
| X-linked intellectual disability-psychosis-macroorchidism syndrome | 4 tests |
| X-linked intellectual disability-retinitis pigmentosa syndrome | 2 tests |
| X-linked intellectual disability-short stature-overweight syndrome | 2 tests |
| X-linked lissencephaly with abnormal genitalia | 8 tests |
| X-linked lymphoproliferative disease due to SH2D1A deficiency | 2 tests |
| X-linked lymphoproliferative disease due to XIAP deficiency | 2 tests |
| X-linked mixed hearing loss with perilymphatic gusher | 1 test |
| X-linked myopathy with excessive autophagy | 2 tests |
| X-linked myopathy with postural muscle atrophy | 3 tests |
| X-linked parkinsonism-spasticity syndrome | 1 test |
| X-linked progressive cerebellar ataxia | 1 test |
| X-linked recessive nephrolithiasis with renal failure | 1 test |
| X-linked reticulate pigmentary disorder | 1 test |
| X-linked scapuloperoneal muscular dystrophy | 1 test |
| X-linked severe combined immunodeficiency | 2 tests |
| X-linked severe congenital neutropenia | 2 tests |
| X-linked sideroblastic anemia 1 | 2 tests |
| X-linked sideroblastic anemia with ataxia | 2 tests |
| X-linked spondyloepimetaphyseal dysplasia | 2 tests |
| XFE progeroid syndrome | 2 tests |
| Xanthinuria type II | 2 tests |
| Xeroderma pigmentosum group A | 2 tests |
| Xeroderma pigmentosum group B | 2 tests |
| Xeroderma pigmentosum variant type | 2 tests |
| Xeroderma pigmentosum, group C | 2 tests |
| Xeroderma pigmentosum, group D | 2 tests |
| Xeroderma pigmentosum, group E | 2 tests |
| Xeroderma pigmentosum, group F | 4 tests |
| Xeroderma pigmentosum, group G | 4 tests |
| Xq27.3q28 duplication syndrome | 2 tests |
| Yao syndrome | 2 tests |
| Yunis-Varon syndrome | 2 tests |
| ZTTK syndrome | 3 tests |
| Zimmermann-Laband syndrome 1 | 2 tests |
| Zimmermann-Laband syndrome 2 | 2 tests |
| Zinc deficiency, transient neonatal | 1 test |
| alpha Thalassemia | 8 tests |
| beta Thalassemia | 8 tests |
| p phenotype | 1 test |
| von Willebrand disease type 1 | 2 tests |
| von Willebrand disease type 2 | 2 tests |
| von Willebrand disease type 3 | 2 tests |