| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 1 | Nov 10, 2020 |
| ALG8 congenital disorder of glycosylation | 1 | Jun 1, 2022 |
| Abnormal facial shape | 1 | Jun 26, 2020 |
| Abnormal pinna morphology | 1 | Apr 26, 2020 |
| Abnormality of the liver | 1 | Nov 10, 2020 |
| Acyl-CoA oxidase deficiency | 1 | Nov 10, 2020 |
| Alkuraya-Kucinskas syndrome | 1 | Nov 10, 2020 |
| Alopecia-intellectual disability syndrome 4 | 2 | May 3, 2023 |
| Alstrom syndrome | 1 | Nov 10, 2020 |
| Alveolar rhabdomyosarcoma | 1 | Nov 10, 2020 |
| Amyotrophic lateral sclerosis type 2, juvenile | 2 | Nov 10, 2020 |
| Amyotrophic lateral sclerosis type 5 | 1 | Nov 10, 2020 |
| Aplasia/Hypoplasia of the cerebellum | 3 | Jan 15, 2019 |
| Ataxia - oculomotor apraxia type 4 | 1 | Oct 29, 2023 |
| Ataxia-telangiectasia syndrome | 1 | Nov 10, 2020 |
| Autosomal recessive Kenny-Caffey syndrome | 1 | Nov 10, 2020 |
| Autosomal recessive congenital ichthyosis 4B | 1 | Nov 10, 2020 |
| Autosomal recessive congenital ichthyosis 5 | 1 | Aug 11, 2020 |
| Autosomal recessive congenital ichthyosis 9 | 1 | Nov 10, 2020 |
| Autosomal recessive early-onset Parkinson disease 7 | 1 | Nov 10, 2020 |
| Autosomal recessive hypophosphatemic bone disease | 1 | Aug 11, 2020 |
| Autosomal recessive juvenile Parkinson disease 2 | 1 | Mar 16, 2021 |
| Autosomal recessive limb-girdle muscular dystrophy type 2E | 1 | Oct 29, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2Y | 1 | Nov 10, 2020 |
| Autosomal recessive nonsyndromic hearing loss 18B | 1 | Aug 11, 2020 |
| Autosomal recessive nonsyndromic hearing loss 66 | 1 | Nov 10, 2020 |
| Autosomal recessive osteopetrosis 1 | 2 | Nov 10, 2020 |
| Autosomal recessive osteopetrosis 4 | 2 | Jun 6, 2021 |
| Autosomal recessive osteopetrosis 8 | 1 | Nov 10, 2020 |
| Autosomal recessive polycystic kidney disease | 2 | Nov 24, 2015 |
| Autosomal recessive spinocerebellar ataxia 12 | 1 | Nov 10, 2020 |
| Baller-Gerold syndrome | 1 | Nov 10, 2020 |
| Bardet-Biedl syndrome 14 | 1 | Nov 10, 2020 |
| Bardet-Biedl syndrome 7 | 1 | Nov 10, 2020 |
| Bardet-Biedl syndrome 8 | 1 | Nov 10, 2020 |
| Biotinidase deficiency | 1 | Aug 11, 2020 |
| Borjeson-Forssman-Lehmann syndrome | 1 | Jan 9, 2020 |
| Bronchiectasis with or without elevated sweat chloride 3 | 1 | Nov 10, 2020 |
| Brunet-Wagner neurodevelopmental syndrome | 1 | Feb 5, 2022 |
| CEDNIK syndrome | 1 | Nov 10, 2020 |
| Capillary leak syndrome | 1 | Jun 12, 2022 |
| Cataract 17 | 1 | Aug 11, 2020 |
| Charcot-Marie-Tooth disease axonal type 2X | 1 | Nov 10, 2020 |
| Charcot-Marie-Tooth disease type 4B1 | 1 | Nov 10, 2020 |
| Charlevoix-Saguenay spastic ataxia | 1 | Nov 10, 2020 |
| Cholestasis | 1 | Nov 10, 2020 |
| Cholestasis, intrahepatic, of pregnancy, 1 | 1 | Nov 10, 2020 |
| Cholestasis, progressive familial intrahepatic, 5 | 1 | Nov 10, 2020 |
| Chédiak-Higashi syndrome | 1 | Nov 10, 2020 |
| Cleft lip/palate | 1 | Apr 26, 2020 |
| Cleft palate | 5 | Mar 1, 2019 |
| Cohen syndrome | 1 | Nov 10, 2020 |
| Combined immunodeficiency due to LRBA deficiency | 2 | Nov 10, 2020 |
| Combined malonic and methylmalonic acidemia | 1 | Aug 11, 2020 |
| Combined oxidative phosphorylation defect type 11 | 1 | Nov 10, 2020 |
| Cone-rod dystrophy 3 | 1 | Aug 11, 2020 |
| Congenital disorder of deglycosylation | 1 | Nov 10, 2020 |
| Congenital heart disease | 1 | Apr 26, 2020 |
| Congenital myasthenic syndrome 10 | 2 | Nov 10, 2020 |
| Congenital myasthenic syndrome 12 | 1 | Nov 10, 2020 |
| Congenital ocular coloboma | 2 | Apr 26, 2020 |
| Congenital secretory diarrhea, chloride type | 1 | Nov 10, 2020 |
| Conotruncal heart malformations | 1 | Nov 10, 2020 |
| Corneal dystrophy | 2 | Jul 11, 2023 |
| Corneal dystrophy, Fuchs endothelial, 6 | 1 | Jun 1, 2022 |
| Cortical dysplasia, complex, with other brain malformations 11 | 1 | Oct 29, 2023 |
| Cortical dysplasia-focal epilepsy syndrome | 1 | Nov 10, 2020 |
| Crohn disease | 1 | Feb 25, 2021 |
| Deeah syndrome | 1 | Dec 31, 2020 |
| Developmental and epileptic encephalopathy, 23 | 1 | Nov 10, 2020 |
| Developmental and epileptic encephalopathy, 28 | 1 | Nov 10, 2020 |
| Developmental and epileptic encephalopathy, 39 | 1 | Nov 10, 2020 |
| Developmental delay | 1 | Nov 10, 2020 |
| Developmental delay with autism spectrum disorder and gait instability | 1 | Nov 10, 2020 |
| Diarrhea | 1 | Nov 10, 2020 |
| Dilated cardiomyopathy 2A | 1 | Jun 18, 2020 |
| Distichiasis-lymphedema syndrome | 1 | Apr 16, 2020 |
| Dyslexia, susceptibility to, 1 | 1 | Nov 10, 2020 |
| Dysmorphism | 1 | Apr 26, 2020 |
| Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | 1 | Nov 10, 2020 |
| Enhanced S-cone syndrome | 2 | Apr 21, 2021 |
| Failure to thrive | 1 | Apr 26, 2020 |
| Familial Mediterranean fever | 3 | Oct 6, 2020 |
| Familial cancer of breast | 1 | Nov 10, 2020 |
| Familial hemophagocytic lymphohistiocytosis 3 | 1 | Nov 10, 2020 |
| Familial renal glucosuria | 1 | Nov 10, 2020 |
| Fanconi anemia complementation group L | 1 | Oct 29, 2023 |
| Filippi syndrome | 1 | Nov 10, 2020 |
| GNE myopathy | 1 | Oct 29, 2023 |
| Gaucher disease type I | 2 | Oct 6, 2020 |
| Generalized dominant dystrophic epidermolysis bullosa | 1 | Nov 10, 2020 |
| Geroderma osteodysplastica | 1 | Nov 10, 2020 |
| Global developmental delay | 5 | Feb 27, 2019 |
| Glucocorticoid deficiency 4 | 1 | Aug 11, 2020 |
| Glycogen storage disease, type II | 1 | Nov 10, 2020 |
| Glycogen storage disease, type V | 1 | Nov 10, 2020 |
| Gnathodiaphyseal dysplasia | 1 | Nov 10, 2020 |
| Gray platelet syndrome | 1 | Nov 10, 2020 |
| Harel-Yoon syndrome | 13 | May 14, 2021 |
| Hearing loss | 1 | Apr 26, 2020 |
| Heimler syndrome 2 | 1 | Nov 10, 2020 |
| Hereditary spastic paraplegia 11 | 1 | Nov 10, 2020 |
| Hereditary spastic paraplegia 50 | 1 | Nov 10, 2020 |
| Hereditary spastic paraplegia 56 | 1 | Nov 10, 2020 |
| Hereditary spastic paraplegia 72 | 1 | Nov 10, 2020 |
| Homocystinuria | 1 | Oct 6, 2020 |
| Horseshoe kidney | 1 | Apr 26, 2020 |
| Hyaline fibromatosis syndrome | 1 | Nov 10, 2020 |
| Hydrocephalus, nonsyndromic, autosomal recessive 2 | 1 | Nov 10, 2020 |
| Hyper-IgM syndrome type 2 | 1 | Nov 10, 2020 |
| Hyperlipoproteinemia, type 1D | 1 | Aug 11, 2020 |
| Hypertelorism | 1 | Apr 26, 2020 |
| Hypoglycemia | 1 | Nov 10, 2020 |
| Hypogonadotropic hypogonadism 7 with or without anosmia | 2 | Oct 6, 2020 |
| Hypomyelinating leukodystrophy 11 | 1 | Oct 29, 2023 |
| Hypoparathyroidism-retardation-dysmorphism syndrome | 1 | Nov 10, 2020 |
| Hypoplastic left heart syndrome | 1 | Jan 8, 2020 |
| Hypotonia | 1 | Nov 10, 2020 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 1 | Nov 10, 2020 |
| Hypotrichosis 13 | 1 | Nov 10, 2020 |
| Infantile liver failure syndrome 1 | 1 | May 12, 2023 |
| Infantile-onset ascending hereditary spastic paralysis | 2 | Nov 10, 2020 |
| Infantile-onset generalized dyskinesia with orofacial involvement | 1 | Nov 10, 2020 |
| Intellectual disability, X-linked 105 | 8 | Apr 20, 2023 |
| Intellectual disability, autosomal recessive 5 | 1 | Nov 10, 2020 |
| Intellectual disability, short stature, facial anomalies, and joint dislocations | 1 | Jul 6, 2021 |
| Intellectual disability-strabismus syndrome | 1 | Oct 29, 2023 |
| Isolated neonatal sclerosing cholangitis | 1 | Nov 10, 2020 |
| Joubert syndrome 14 | 1 | Nov 10, 2020 |
| Joubert syndrome 5 | 1 | Nov 10, 2020 |
| Juvenile nephropathic cystinosis | 2 | Nov 10, 2020 |
| Juvenile primary lateral sclerosis | 2 | Nov 10, 2020 |
| Kahrizi syndrome | 1 | Nov 10, 2020 |
| Leber congenital amaurosis 10 | 1 | Nov 10, 2020 |
| Lethal acantholytic epidermolysis bullosa | 1 | Mar 6, 2024 |
| Lethal congenital contracture syndrome 11 | 1 | Apr 16, 2020 |
| Liddle syndrome 2 | 1 | Nov 10, 2020 |
| Long QT syndrome | 1 | Nov 10, 2020 |
| Long fingers | 1 | Apr 26, 2020 |
| Lymphatic malformation 6 | 1 | Apr 16, 2020 |
| MEDNIK syndrome | 2 | Nov 10, 2020 |
| Macrocephaly, dysmorphic facies, and psychomotor retardation | 1 | Nov 10, 2020 |
| Malignant tumor of esophagus | 1 | Nov 10, 2020 |
| Meckel syndrome, type 4 | 1 | Nov 10, 2020 |
| Meconium ileus | 1 | Aug 11, 2020 |
| Merosin deficient congenital muscular dystrophy | 1 | Nov 10, 2020 |
| Microcephalic primordial dwarfism, Alazami type | 1 | Nov 10, 2020 |
| Microcephaly | 2 | Nov 10, 2020 |
| Microcephaly 15, primary, autosomal recessive | 1 | Mar 25, 2018 |
| Microcephaly, seizures, and developmental delay | 1 | Jun 17, 2022 |
| Mitochondrial DNA depletion syndrome 13 | 1 | Nov 10, 2020 |
| Mitochondrial myopathy-lactic acidosis-deafness syndrome | 1 | Nov 10, 2020 |
| Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | 1 | Jun 1, 2022 |
| Motor polyneuropathy | 1 | Jan 11, 2019 |
| Multiple endocrine neoplasia, type 2 | 1 | Apr 21, 2021 |
| Multiple mitochondrial dysfunctions syndrome 1 | 1 | Nov 10, 2020 |
| Muscular dystrophy, limb-girdle, autosomal recessive 23 | 2 | Oct 29, 2023 |
| Myopathy, congenital, progressive, with scoliosis | 1 | Nov 10, 2020 |
| Nemaline myopathy 5 | 1 | Nov 10, 2020 |
| Nemaline myopathy 8 | 1 | Nov 10, 2020 |
| Neonatal-onset encephalopathy with rigidity and seizures | 1 | Jun 6, 2021 |
| Nephronophthisis 19 | 1 | Nov 10, 2020 |
| Nephropathic cystinosis | 2 | Nov 10, 2020 |
| Nephrotic syndrome, type 3 | 1 | Nov 10, 2020 |
| Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | 2 | Oct 29, 2023 |
| Neurodevelopmental disorder | 9 | May 4, 2023 |
| Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | 1 | Oct 29, 2023 |
| Nystagmus | 1 | Nov 10, 2020 |
| Ocular cystinosis | 2 | Nov 10, 2020 |
| Oculocutaneous albinism type 1B | 1 | Mar 16, 2021 |
| Orofaciodigital syndrome I | 1 | Apr 24, 2023 |
| Osteochondritis dissecans | 1 | Nov 10, 2021 |
| Osteogenesis imperfecta type 11 | 1 | Jun 6, 2021 |
| Osteopetrosis with renal tubular acidosis | 1 | Nov 10, 2020 |
| Pectus excavatum | 1 | Nov 10, 2020 |
| Polycystic kidney disease 4 | 1 | Jun 1, 2022 |
| Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | 1 | Jun 6, 2021 |
| Primary Immune Deficiency | 1 | Apr 26, 2020 |
| Primary ciliary dyskinesia 19 | 1 | Oct 29, 2023 |
| Primary ciliary dyskinesia 25 | 1 | Nov 10, 2020 |
| Primary ciliary dyskinesia 33 | 1 | Nov 10, 2020 |
| Primary ciliary dyskinesia 7 | 1 | Nov 10, 2020 |
| Primary ciliary dyskinesia 9 | 1 | Nov 10, 2020 |
| Progressive encephalopathy with leukodystrophy due to DECR deficiency | 1 | Aug 11, 2020 |
| Progressive familial intrahepatic cholestasis type 1 | 2 | Nov 10, 2020 |
| Progressive familial intrahepatic cholestasis type 2 | 1 | Nov 10, 2020 |
| Progressive microcephaly | 1 | Apr 23, 2018 |
| Prolidase deficiency | 1 | Nov 10, 2020 |
| Pseudohypoaldosteronism, type IB1, autosomal recessive | 1 | Nov 10, 2020 |
| Pyruvate dehydrogenase E3 deficiency | 1 | Oct 29, 2023 |
| RIN2 syndrome | 1 | Nov 10, 2020 |
| Rapadilino syndrome | 1 | Nov 10, 2020 |
| Recessive dystrophic epidermolysis bullosa | 1 | Nov 10, 2020 |
| Recurrent encephalopathy | 1 | Apr 23, 2018 |
| Retinal disorder | 4 | Mar 1, 2019 |
| Retinitis pigmentosa 19 | 1 | Aug 11, 2020 |
| Retinitis pigmentosa 51 | 1 | Nov 10, 2020 |
| Roberts-SC phocomelia syndrome | 1 | Nov 10, 2020 |
| Rothmund-Thomson syndrome type 2 | 1 | Nov 10, 2020 |
| SGSM3-related intellectual disability | 1 | May 3, 2023 |
| SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES | 1 | Nov 10, 2020 |
| SRD5A3-congenital disorder of glycosylation | 1 | Nov 10, 2020 |
| Sacral dysplasia | 1 | Apr 26, 2020 |
| Schimke immuno-osseous dysplasia | 1 | Nov 10, 2020 |
| Seckel syndrome 7 | 1 | Nov 10, 2020 |
| See cases | 13 | May 30, 2024 |
| Sengers syndrome | 1 | Nov 10, 2020 |
| Senior-Loken syndrome 6 | 1 | Nov 10, 2020 |
| Severe combined immunodeficiency due to LCK deficiency | 1 | Nov 10, 2020 |
| Severe early-childhood-onset retinal dystrophy | 1 | Aug 11, 2020 |
| Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | 2 | Mar 16, 2018 |
| Seziures | 1 | Apr 26, 2020 |
| Short stature | 1 | Jun 26, 2020 |
| Sideroblastic anemia 2 | 1 | Nov 10, 2020 |
| Sjögren-Larsson syndrome | 1 | Nov 10, 2020 |
| Skin creases, congenital symmetric circumferential, 2 | 1 | May 31, 2019 |
| Smith-Lemli-Opitz syndrome | 2 | Aug 11, 2020 |
| Spastic paraplegia 82, autosomal recessive | 1 | Oct 29, 2023 |
| Spastic tetraplegia and axial hypotonia, progressive | 1 | Aug 6, 2021 |
| Specific granule deficiency 2 | 1 | Nov 10, 2020 |
| Spondylo-ocular syndrome | 1 | Nov 10, 2020 |
| Striatal degeneration, autosomal dominant 2 | 1 | Nov 10, 2020 |
| Succinate-semialdehyde dehydrogenase deficiency | 1 | Nov 10, 2020 |
| Synpolydactyly type 1 | 1 | Jun 10, 2024 |
| Tethered cord | 1 | Apr 26, 2020 |
| Transient infantile hypertriglyceridemia and hepatosteatosis | 1 | Nov 10, 2020 |
| Trichohepatoenteric syndrome 1 | 1 | Nov 10, 2020 |
| Trimethylaminuria | 1 | Nov 10, 2021 |
| Type 2 diabetes mellitus | 1 | Nov 10, 2020 |
| Tyrosinase-negative oculocutaneous albinism | 2 | Oct 6, 2020 |
| Vertebral, cardiac, renal, and limb defects syndrome 1 | 1 | Nov 10, 2020 |
| Vici syndrome | 1 | Nov 10, 2020 |
| Vitreoretinopathy | 1 | Jun 19, 2018 |
| Waardenburg syndrome type 4C | 1 | Jan 8, 2020 |
| Wilson disease | 3 | Apr 21, 2021 |
| Woodhouse-Sakati syndrome | 1 | Nov 10, 2020 |
| Wooly hair, autosomal recessive 3 | 1 | Nov 10, 2020 |
| Xeroderma pigmentosum, group C | 1 | Nov 10, 2020 |
| Xeroderma pigmentosum, group D | 1 | Oct 29, 2023 |
| bilateral optic disc gliosis | 1 | Apr 26, 2020 |
| imperforate anus with fistula | 1 | Apr 26, 2020 |
| imperforated anus | 1 | Apr 26, 2020 |
| lethal neurodevelopmental disorder | 1 | Jun 16, 2021 |
| not provided | 5 | Jul 11, 2023 |
| not specified | 2 | Jun 6, 2021 |
| visual disturbance | 1 | Nov 10, 2020 |
