| 2-aminoadipic 2-oxoadipic aciduria | 9 | Sep 11, 2021 |
| 3 beta-Hydroxysteroid dehydrogenase deficiency | 2 | Aug 30, 2021 |
| 3-Methylglutaconic aciduria type 3 | 4 | Jun 20, 2021 |
| 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 3 | Jan 12, 2022 |
| 3-methylcrotonyl-CoA carboxylase 1 deficiency | 10 | Nov 10, 2021 |
| 3-methylcrotonyl-CoA carboxylase 2 deficiency | 8 | Nov 10, 2021 |
| 3-methylglutaconic aciduria type 1 | 1 | Aug 9, 2021 |
| 3-methylglutaconic aciduria type 9 | 4 | Feb 21, 2022 |
| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 43 | Jul 28, 2022 |
| 3M syndrome 1 | 2 | Sep 11, 2021 |
| 3M syndrome 2 | 21 | Dec 4, 2021 |
| 3MC syndrome 1 | 1 | Nov 10, 2021 |
| 46,XX ovarian dysgenesis-short stature syndrome | 1 | Nov 10, 2021 |
| 46,XY sex reversal 11 | 15 | Sep 11, 2021 |
| 46,XY sex reversal 9 | 1 | May 15, 2022 |
| 5-Oxoprolinase deficiency | 1 | Dec 4, 2021 |
| 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 25 | Nov 24, 2021 |
| ABCD syndrome | 1 | Sep 11, 2021 |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 23 | Jun 7, 2022 |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 56 | Jun 7, 2022 |
| AICA-ribosiduria | 8 | Aug 9, 2021 |
| ALDH18A1-related de Barsy syndrome | 7 | Aug 4, 2021 |
| ALG1-congenital disorder of glycosylation | 10 | Aug 4, 2021 |
| ALG6-congenital disorder of glycosylation 1C | 7 | Jul 20, 2021 |
| ALG8 congenital disorder of glycosylation | 6 | Aug 4, 2021 |
| ALG9 congenital disorder of glycosylation | 2 | Aug 4, 2021 |
| Aarskog syndrome | 2 | Sep 21, 2021 |
| Abetalipoproteinaemia | 15 | Nov 10, 2021 |
| Abortive cerebellar ataxia | 4 | Dec 4, 2021 |
| Acetyl-CoA: carboxylase deficiency | 1 | May 19, 2021 |
| Achondrogenesis, type IA | 3 | Feb 21, 2022 |
| Achondrogenesis, type IB | 8 | Sep 1, 2021 |
| Achromatopsia 3 | 11 | Aug 11, 2021 |
| Achromatopsia 4 | 15 | Oct 18, 2023 |
| Achromatopsia 7 | 6 | Aug 9, 2021 |
| Acne inversa, familial, 2 | 1 | Dec 8, 2021 |
| Acne inversa, familial, 3 | 1 | Dec 8, 2021 |
| Acral peeling skin syndrome | 1 | Feb 21, 2022 |
| Acrocallosal syndrome | 12 | Oct 18, 2021 |
| Acrocapitofemoral dysplasia | 3 | Oct 12, 2021 |
| Acrodysostosis 1 with or without hormone resistance | 4 | Dec 8, 2021 |
| Acrodysostosis 2 with or without hormone resistance | 5 | Dec 4, 2021 |
| Acrofacial dysostosis Cincinnati type | 7 | Dec 8, 2021 |
| Acrokeratosis verruciformis of Hopf | 17 | Jun 25, 2022 |
| Acroosteolysis-keloid-like lesions-premature aging syndrome | 5 | Dec 4, 2021 |
| Actin accumulation myopathy | 1 | Aug 4, 2021 |
| Action myoclonus-renal failure syndrome | 1 | Dec 15, 2021 |
| Acute febrile neutrophilic dermatosis | 185 | Jul 15, 2024 |
| Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 2 | Jul 31, 2021 |
| Acute intermittent porphyria | 1 | Sep 21, 2021 |
| Acute myeloid leukemia | 1 | Jan 10, 2022 |
| Acyl-CoA dehydrogenase 9 deficiency | 14 | Aug 11, 2021 |
| Acyl-CoA oxidase deficiency | 7 | Aug 11, 2021 |
| Adams-Oliver syndrome 1 | 30 | Jun 25, 2022 |
| Adams-Oliver syndrome 2 | 9 | Sep 11, 2021 |
| Adams-Oliver syndrome 4 | 4 | Sep 11, 2021 |
| Adams-Oliver syndrome 5 | 586 | Jul 28, 2022 |
| Adenosine kinase deficiency | 1 | Aug 4, 2021 |
| Adenylosuccinate lyase deficiency | 1 | May 19, 2021 |
| Adermatoglyphia | 4 | Jan 12, 2022 |
| Adrenocortical carcinoma, hereditary | 1 | Apr 28, 2021 |
| Adrenoleukodystrophy | 129 | Dec 29, 2021 |
| Adult hypophosphatasia | 20 | Aug 11, 2021 |
| Adult polyglucosan body disease | 9 | Sep 21, 2021 |
| Adult-onset proximal spinal muscular atrophy, autosomal dominant | 2 | May 15, 2022 |
| Agammaglobulinemia 4, autosomal recessive | 3 | Aug 9, 2021 |
| Agammaglobulinemia 5, autosomal dominant | 2 | Oct 18, 2021 |
| Agammaglobulinemia 7, autosomal recessive | 3 | Dec 4, 2021 |
| Agammaglobulinemia 8, autosomal dominant | 2 | Aug 2, 2021 |
| Age related macular degeneration 1 | 274 | Dec 17, 2023 |
| Age related macular degeneration 2 | 17 | Aug 4, 2021 |
| Age related macular degeneration 4 | 130 | Dec 17, 2023 |
| Age related macular degeneration 9 | 23 | Aug 10, 2021 |
| Agenesis of the corpus callosum with peripheral neuropathy | 62 | Jan 10, 2022 |
| Aicardi-Goutieres syndrome 5 | 2 | Jul 28, 2021 |
| Aicardi-Goutieres syndrome 6 | 76 | Oct 18, 2023 |
| Aicardi-Goutieres syndrome 7 | 2 | Sep 21, 2021 |
| Al Kaissi syndrome | 2 | Aug 10, 2021 |
| Al-Raqad syndrome | 2 | Sep 11, 2021 |
| Alacrima, achalasia, and intellectual disability syndrome | 2 | Sep 21, 2021 |
| Alagille syndrome due to a JAG1 point mutation | 5 | Oct 18, 2021 |
| Alagille syndrome due to a NOTCH2 point mutation | 3 | Nov 24, 2021 |
| Aland island eye disease | 5 | Aug 10, 2021 |
| Alazami-Yuan syndrome | 6 | Jan 25, 2022 |
| Aldosterone-producing adenoma with seizures and neurological abnormalities | 11 | Aug 10, 2021 |
| Alkaptonuria | 2 | Sep 21, 2021 |
| Alkuraya-Kucinskas syndrome | 4 | Oct 18, 2021 |
| Allan-Herndon-Dudley syndrome | 2 | Jan 10, 2022 |
| Alopecia universalis congenita | 3 | Sep 21, 2021 |
| Alopecia-intellectual disability syndrome 1 | 3 | Aug 4, 2021 |
| Alopecia-intellectual disability syndrome 4 | 6 | Nov 10, 2021 |
| Alpha thalassemia-X-linked intellectual disability syndrome | 6 | Aug 11, 2021 |
| Alpha-N-acetylgalactosaminidase deficiency type 1 | 2 | Nov 17, 2021 |
| Alpha-N-acetylgalactosaminidase deficiency type 2 | 2 | Nov 17, 2021 |
| Alpha-methylacyl-CoA racemase deficiency | 6 | Aug 4, 2021 |
| Alstrom syndrome | 43 | Aug 30, 2021 |
| Alternating hemiplegia of childhood 1 | 68 | Jun 25, 2022 |
| Alternating hemiplegia of childhood 2 | 51 | Jun 25, 2022 |
| Alzheimer disease 3 | 1 | Dec 8, 2021 |
| Alzheimer disease 4 | 8 | Dec 8, 2021 |
| Amelocerebrohypohidrotic syndrome | 1 | Dec 15, 2021 |
| Amelogenesis imperfecta hypomaturation type 2A2 | 1 | Nov 10, 2021 |
| Amelogenesis imperfecta hypomaturation type 2A3 | 8 | May 15, 2022 |
| Amelogenesis imperfecta type 1A | 23 | Jul 17, 2021 |
| Amelogenesis imperfecta type 1G | 2 | Sep 21, 2021 |
| Amelogenesis imperfecta type 1H | 1 | Oct 18, 2021 |
| Amelogenesis imperfecta, hypocalcification type | 3 | Sep 21, 2021 |
| Amish lethal microcephaly | 4 | Jan 10, 2022 |
| Amyloidosis, primary localized cutaneous, 2 | 4 | Oct 18, 2021 |
| Amyotrophic lateral sclerosis type 10 | 1 | Jan 25, 2022 |
| Amyotrophic lateral sclerosis type 11 | 6 | Sep 21, 2021 |
| Amyotrophic lateral sclerosis type 16 | 1 | Jan 10, 2022 |
| Amyotrophic lateral sclerosis type 18 | 1 | Dec 4, 2021 |
| Amyotrophic lateral sclerosis type 19 | 3 | Sep 11, 2021 |
| Amyotrophic lateral sclerosis type 2, juvenile | 10 | Aug 4, 2021 |
| Amyotrophic lateral sclerosis type 4 | 205 | May 28, 2023 |
| Amyotrophic lateral sclerosis type 5 | 195 | Dec 8, 2022 |
| Amyotrophic lateral sclerosis type 8 | 2 | May 15, 2022 |
| Amyotrophic neuralgia | 37 | May 15, 2022 |
| Anauxetic dysplasia 2 | 1 | Dec 8, 2021 |
| Anauxetic dysplasia 3 | 2 | Aug 10, 2021 |
| Androgen resistance syndrome | 1 | May 19, 2021 |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 1 | Aug 30, 2021 |
| Anencephaly 1 | 2 | Feb 21, 2022 |
| Aneurysm-osteoarthritis syndrome | 1 | Jan 12, 2022 |
| Angioedema, hereditary, 4 | 7 | Dec 8, 2021 |
| Aniridia 2 | 1 | Sep 11, 2021 |
| Aniridia 3 | 2 | Feb 21, 2022 |
| Annular epidermolytic ichthyosis | 1 | Oct 18, 2021 |
| Anterior segment dysgenesis 1 | 1 | Dec 4, 2021 |
| Anterior segment dysgenesis 3 | 1 | Sep 21, 2021 |
| Anterior segment dysgenesis 6 | 6 | Sep 11, 2021 |
| Anterior segment dysgenesis 7 | 12 | Dec 15, 2021 |
| Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 6 | Dec 8, 2021 |
| Aortic aneurysm, familial thoracic 4 | 12 | Nov 10, 2021 |
| Aortic aneurysm, familial thoracic 7 | 6 | Nov 17, 2021 |
| Aortic aneurysm, familial thoracic 8 | 3 | Dec 8, 2021 |
| Aortic aneurysm, familial thoracic 9 | 1 | Nov 10, 2021 |
| Aortic valve disease 1 | 586 | Jul 28, 2022 |
| Aortic valve disease 2 | 1 | Jan 12, 2022 |
| Apparent mineralocorticoid excess | 2 | Sep 21, 2021 |
| Arginase deficiency | 1 | Aug 9, 2021 |
| Arginine:glycine amidinotransferase deficiency | 2 | Sep 21, 2021 |
| Argininosuccinate lyase deficiency | 17 | Aug 30, 2021 |
| Ariboflavinosis | 4 | Jan 12, 2022 |
| Aromatase excess syndrome | 2 | Jul 13, 2021 |
| Arrhinia with choanal atresia and microphthalmia syndrome | 13 | Jan 12, 2022 |
| Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 8 | Sep 11, 2021 |
| Arrhythmogenic right ventricular dysplasia 12 | 5 | Oct 18, 2021 |
| Arrhythmogenic right ventricular dysplasia 2 | 23 | Dec 15, 2021 |
| Arrhythmogenic right ventricular dysplasia 5 | 3 | Feb 21, 2022 |
| Arrhythmogenic right ventricular dysplasia 9 | 1 | Dec 4, 2021 |
| Arterial calcification, generalized, of infancy, 1 | 2 | Sep 11, 2021 |
| Arterial calcification, generalized, of infancy, 2 | 57 | Jun 7, 2022 |
| Arterial tortuosity syndrome | 1 | Jan 12, 2022 |
| Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect | 8 | Oct 18, 2021 |
| Arthrogryposis multiplex congenita 3, myogenic type | 31 | Jan 25, 2022 |
| Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum | 3 | Jan 10, 2022 |
| Arthrogryposis multiplex congenita 6 | 63 | Aug 20, 2021 |
| Arthrogryposis, Perthes disease, and upward gaze palsy | 3 | Nov 24, 2021 |
| Arthrogryposis, distal, type 1B | 9 | Nov 10, 2021 |
| Arthrogryposis, distal, type 2B2 | 6 | Aug 2, 2021 |
| Arthrogryposis, distal, type 2B3 | 22 | Nov 17, 2021 |
| Arthrogryposis, distal, with impaired proprioception and touch | 24 | Dec 4, 2021 |
| Arthrogryposis, renal dysfunction, and cholestasis 1 | 2 | May 15, 2022 |
| Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | 24 | Dec 4, 2021 |
| Arts syndrome | 1 | Dec 8, 2021 |
| Aspartylglucosaminuria | 9 | Aug 11, 2021 |
| Asphyxiating thoracic dystrophy 3 | 14 | Sep 11, 2021 |
| Asphyxiating thoracic dystrophy 4 | 6 | Mar 2, 2022 |
| Asphyxiating thoracic dystrophy 5 | 21 | May 15, 2022 |
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 20 | Oct 18, 2021 |
| Ataxia - oculomotor apraxia type 4 | 1 | Dec 8, 2021 |
| Ataxia with oculomotor apraxia type 3 | 11 | Dec 4, 2021 |
| Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | 3 | Aug 9, 2021 |
| Ataxia-hypogonadism-choroidal dystrophy syndrome | 13 | Dec 8, 2021 |
| Ataxia-telangiectasia syndrome | 47 | Aug 30, 2021 |
| Atelosteogenesis type II | 7 | Sep 1, 2021 |
| Atrial conduction disease | 38 | Oct 18, 2023 |
| Atrial fibrillation, familial, 14 | 1 | Jan 10, 2022 |
| Atrial fibrillation, familial, 15 | 1 | Dec 4, 2021 |
| Atrial fibrillation, familial, 7 | 1 | Oct 18, 2021 |
| Atrial septal defect 4 | 3 | Jan 25, 2022 |
| Atrichia with papular lesions | 3 | Sep 21, 2021 |
| Atypical hemolytic-uremic syndrome with B factor anomaly | 2 | Aug 23, 2021 |
| Auditory neuropathy-optic atrophy syndrome | 1 | Sep 21, 2021 |
| Aural atresia, congenital | 4 | Mar 2, 2022 |
| Auriculocondylar syndrome 2 | 4 | Dec 4, 2021 |
| Auriculocondylar syndrome 3 | 2 | Sep 11, 2021 |
| Autism spectrum disorder - epilepsy - arthrogryposis syndrome | 2 | Jul 31, 2021 |
| Autism, susceptibility to, 5 | 1 | Jan 25, 2022 |
| Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | 1 | Jan 12, 2022 |
| Autoimmune lymphoproliferative syndrome type 1 | 2 | Sep 21, 2021 |
| Autoimmune lymphoproliferative syndrome type 2A | 2 | Aug 10, 2021 |
| Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD | 6 | Dec 8, 2021 |
| Autoinflammation with arthritis and dyskeratosis | 3 | Nov 24, 2021 |
| Autoinflammation with episodic fever and lymphadenopathy | 1 | Dec 15, 2021 |
| Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | 13 | Dec 8, 2021 |
| Autoinflammatory syndrome, familial, Behcet-like | 2 | Feb 21, 2022 |
| Autosomal dominant Alport syndrome | 15 | Sep 11, 2021 |
| Autosomal dominant Opitz G/BBB syndrome | 3 | Jan 12, 2022 |
| Autosomal dominant Robinow syndrome 2 | 5 | Aug 2, 2021 |
| Autosomal dominant aplasia and myelodysplasia | 3 | Jan 12, 2022 |
| Autosomal dominant auditory neuropathy 1 | 2 | Sep 11, 2021 |
| Autosomal dominant centronuclear myopathy | 1 | Sep 11, 2021 |
| Autosomal dominant cerebellar ataxia, deafness and narcolepsy | 6 | Sep 11, 2021 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | 1 | Aug 9, 2021 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 10 | Sep 11, 2021 |
| Autosomal dominant deafness - onychodystrophy syndrome | 1 | Aug 9, 2021 |
| Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | 10 | Sep 1, 2021 |
| Autosomal dominant hypocalcemia 1 | 5 | Aug 10, 2021 |
| Autosomal dominant keratitis-ichthyosis-hearing loss syndrome | 1 | Aug 15, 2021 |
| Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | 1 | Sep 11, 2021 |
| Autosomal dominant limb-girdle muscular dystrophy type 1F | 3 | Feb 21, 2022 |
| Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency | 1 | Sep 21, 2021 |
| Autosomal dominant mitochondrial myopathy with exercise intolerance | 4 | Aug 23, 2021 |
| Autosomal dominant nocturnal frontal lobe epilepsy 1 | 9 | Aug 23, 2021 |
| Autosomal dominant nocturnal frontal lobe epilepsy 4 | 2 | Aug 23, 2021 |
| Autosomal dominant nocturnal frontal lobe epilepsy 5 | 307 | Jul 28, 2022 |
| Autosomal dominant nonsyndromic hearing loss 1 | 1 | Sep 11, 2021 |
| Autosomal dominant nonsyndromic hearing loss 10 | 3 | Sep 21, 2021 |
| Autosomal dominant nonsyndromic hearing loss 11 | 64 | Nov 17, 2021 |
| Autosomal dominant nonsyndromic hearing loss 12 | 9 | Feb 21, 2022 |
| Autosomal dominant nonsyndromic hearing loss 13 | 15 | Sep 1, 2021 |
| Autosomal dominant nonsyndromic hearing loss 17 | 7 | Nov 17, 2021 |
| Autosomal dominant nonsyndromic hearing loss 20 | 54 | Jun 7, 2022 |
| Autosomal dominant nonsyndromic hearing loss 22 | 3 | Nov 17, 2021 |
| Autosomal dominant nonsyndromic hearing loss 23 | 1 | Jan 10, 2022 |
| Autosomal dominant nonsyndromic hearing loss 25 | 2 | Jan 10, 2022 |
| Autosomal dominant nonsyndromic hearing loss 28 | 3 | Sep 21, 2021 |
| Autosomal dominant nonsyndromic hearing loss 2A | 50 | Dec 1, 2023 |
| Autosomal dominant nonsyndromic hearing loss 2B | 1 | Sep 21, 2021 |
| Autosomal dominant nonsyndromic hearing loss 36 | 1 | Feb 21, 2022 |
| Autosomal dominant nonsyndromic hearing loss 3A | 2 | Dec 4, 2021 |
| Autosomal dominant nonsyndromic hearing loss 40 | 2 | Sep 11, 2021 |
| Autosomal dominant nonsyndromic hearing loss 41 | 4 | Dec 4, 2021 |
| Autosomal dominant nonsyndromic hearing loss 44 | 10 | Aug 10, 2021 |
| Autosomal dominant nonsyndromic hearing loss 4A | 15 | Nov 10, 2021 |
| Autosomal dominant nonsyndromic hearing loss 5 | 7 | Sep 11, 2021 |
| Autosomal dominant nonsyndromic hearing loss 56 | 49 | Jul 28, 2022 |
| Autosomal dominant nonsyndromic hearing loss 67 | 4 | Dec 4, 2021 |
| Autosomal dominant nonsyndromic hearing loss 7 | 2 | Oct 18, 2021 |
| Autosomal dominant nonsyndromic hearing loss 70 | 2 | Nov 10, 2021 |
| Autosomal dominant nonsyndromic hearing loss 9 | 2 | Sep 1, 2021 |
| Autosomal dominant optic atrophy classic form | 4 | Dec 4, 2021 |
| Autosomal dominant osteopetrosis 2 | 11 | Aug 2, 2021 |
| Autosomal dominant popliteal pterygium syndrome | 3 | Oct 18, 2021 |
| Autosomal dominant pseudohypoaldosteronism type 1 | 4 | Dec 4, 2021 |
| Autosomal dominant striatal neurodegeneration type 1 | 1 | Dec 4, 2021 |
| Autosomal dominant vitreoretinochoroidopathy | 5 | Aug 9, 2021 |
| Autosomal recessive Alport syndrome | 93 | Sep 11, 2021 |
| Autosomal recessive DOPA responsive dystonia | 18 | Sep 1, 2021 |
| Autosomal recessive Robinow syndrome | 5 | Dec 15, 2021 |
| Autosomal recessive amelia | 1 | Jan 25, 2022 |
| Autosomal recessive ataxia due to ubiquinone deficiency | 11 | Aug 4, 2021 |
| Autosomal recessive ataxia, Beauce type | 31 | Jan 25, 2022 |
| Autosomal recessive bestrophinopathy | 5 | Aug 9, 2021 |
| Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | 2 | Oct 18, 2023 |
| Autosomal recessive complex spastic paraplegia type 9B | 7 | Aug 4, 2021 |
| Autosomal recessive congenital ichthyosis 1 | 67 | Dec 8, 2022 |
| Autosomal recessive congenital ichthyosis 10 | 6 | Dec 8, 2021 |
| Autosomal recessive congenital ichthyosis 11 | 6 | Jan 12, 2022 |
| Autosomal recessive congenital ichthyosis 2 | 3 | Aug 4, 2021 |
| Autosomal recessive congenital ichthyosis 3 | 5 | Aug 4, 2021 |
| Autosomal recessive congenital ichthyosis 4A | 17 | Aug 2, 2021 |
| Autosomal recessive congenital ichthyosis 4B | 17 | Aug 2, 2021 |
| Autosomal recessive congenital ichthyosis 5 | 5 | Sep 11, 2021 |
| Autosomal recessive congenital ichthyosis 6 | 2 | Nov 24, 2021 |
| Autosomal recessive congenital ichthyosis 8 | 2 | Oct 18, 2021 |
| Autosomal recessive congenital ichthyosis 9 | 5 | Aug 23, 2021 |
| Autosomal recessive cutis laxa type 2B | 2 | Dec 15, 2021 |
| Autosomal recessive distal renal tubular acidosis | 7 | Aug 9, 2021 |
| Autosomal recessive distal spinal muscular atrophy 2 | 1 | Jan 10, 2022 |
| Autosomal recessive early-onset Parkinson disease 23 | 9 | May 15, 2022 |
| Autosomal recessive early-onset Parkinson disease 6 | 4 | Dec 4, 2021 |
| Autosomal recessive hypophosphatemic bone disease | 1 | Jan 12, 2022 |
| Autosomal recessive inherited pseudoxanthoma elasticum | 57 | Jun 7, 2022 |
| Autosomal recessive keratitis-ichthyosis-deafness syndrome | 2 | Aug 9, 2021 |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 25 | Aug 30, 2021 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 40 | Sep 11, 2021 |
| Autosomal recessive limb-girdle muscular dystrophy type 2C | 12 | Jan 10, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2D | 116 | May 28, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2E | 4 | Jan 10, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2F | 151 | May 28, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2G | 1 | Jan 25, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2I | 7 | Aug 15, 2021 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 635 | Mar 2, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2K | 14 | Dec 8, 2021 |
| Autosomal recessive limb-girdle muscular dystrophy type 2L | 39 | Jun 25, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2M | 9 | Sep 21, 2021 |
| Autosomal recessive limb-girdle muscular dystrophy type 2N | 4 | Dec 8, 2021 |
| Autosomal recessive limb-girdle muscular dystrophy type 2O | 16 | Dec 8, 2021 |
| Autosomal recessive limb-girdle muscular dystrophy type 2P | 2 | Sep 11, 2021 |
| Autosomal recessive limb-girdle muscular dystrophy type 2Q | 39 | Dec 8, 2021 |
| Autosomal recessive limb-girdle muscular dystrophy type 2R1 | 2 | Dec 8, 2021 |
| Autosomal recessive limb-girdle muscular dystrophy type 2T | 1 | Sep 21, 2021 |
| Autosomal recessive limb-girdle muscular dystrophy type 2W | 1 | Oct 18, 2021 |
| Autosomal recessive limb-girdle muscular dystrophy type 2X | 3 | Aug 10, 2021 |
| Autosomal recessive limb-girdle muscular dystrophy type 2Y | 53 | Dec 17, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type R18 | 5 | Feb 21, 2022 |
| Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency | 1 | Dec 15, 2021 |
| Autosomal recessive nonsyndromic hearing loss 101 | 1 | Sep 21, 2021 |
| Autosomal recessive nonsyndromic hearing loss 104 | 4 | Sep 21, 2021 |
| Autosomal recessive nonsyndromic hearing loss 12 | 102 | Aug 30, 2021 |
| Autosomal recessive nonsyndromic hearing loss 15 | 1 | Sep 21, 2021 |
| Autosomal recessive nonsyndromic hearing loss 16 | 33 | Dec 8, 2022 |
| Autosomal recessive nonsyndromic hearing loss 18A | 39 | May 15, 2022 |
| Autosomal recessive nonsyndromic hearing loss 18B | 10 | Dec 4, 2021 |
| Autosomal recessive nonsyndromic hearing loss 1A | 8 | Aug 30, 2021 |
| Autosomal recessive nonsyndromic hearing loss 2 | 73 | Nov 17, 2021 |
| Autosomal recessive nonsyndromic hearing loss 21 | 9 | Feb 21, 2022 |
| Autosomal recessive nonsyndromic hearing loss 22 | 5 | Dec 4, 2021 |
| Autosomal recessive nonsyndromic hearing loss 23 | 29 | Dec 4, 2021 |
| Autosomal recessive nonsyndromic hearing loss 24 | 2 | Dec 15, 2021 |
| Autosomal recessive nonsyndromic hearing loss 25 | 1 | Sep 21, 2021 |
| Autosomal recessive nonsyndromic hearing loss 28 | 12 | Feb 21, 2022 |
| Autosomal recessive nonsyndromic hearing loss 29 | 2 | Aug 23, 2021 |
| Autosomal recessive nonsyndromic hearing loss 3 | 18 | Nov 17, 2021 |
| Autosomal recessive nonsyndromic hearing loss 30 | 20 | Nov 17, 2021 |
| Autosomal recessive nonsyndromic hearing loss 31 | 11 | Sep 11, 2021 |
| Autosomal recessive nonsyndromic hearing loss 32 | 3 | Aug 10, 2021 |
| Autosomal recessive nonsyndromic hearing loss 35 | 1 | Sep 11, 2021 |
| Autosomal recessive nonsyndromic hearing loss 37 | 3 | Nov 17, 2021 |
| Autosomal recessive nonsyndromic hearing loss 39 | 2 | Sep 21, 2021 |
| Autosomal recessive nonsyndromic hearing loss 4 | 103 | Nov 24, 2021 |
| Autosomal recessive nonsyndromic hearing loss 42 | 2 | Oct 18, 2021 |
| Autosomal recessive nonsyndromic hearing loss 44 | 5 | Aug 4, 2021 |
| Autosomal recessive nonsyndromic hearing loss 49 | 1 | Nov 10, 2021 |
| Autosomal recessive nonsyndromic hearing loss 53 | 15 | Sep 1, 2021 |
| Autosomal recessive nonsyndromic hearing loss 59 | 2 | Sep 11, 2021 |
| Autosomal recessive nonsyndromic hearing loss 6 | 1 | Feb 21, 2022 |
| Autosomal recessive nonsyndromic hearing loss 61 | 2 | Jan 12, 2022 |
| Autosomal recessive nonsyndromic hearing loss 66 | 4 | Sep 11, 2021 |
| Autosomal recessive nonsyndromic hearing loss 68 | 1 | Dec 15, 2021 |
| Autosomal recessive nonsyndromic hearing loss 7 | 2 | Feb 21, 2022 |
| Autosomal recessive nonsyndromic hearing loss 70 | 6 | Dec 8, 2021 |
| Autosomal recessive nonsyndromic hearing loss 76 | 2 | Jan 25, 2022 |
| Autosomal recessive nonsyndromic hearing loss 77 | 26 | Aug 30, 2021 |
| Autosomal recessive nonsyndromic hearing loss 8 | 5 | Feb 21, 2022 |
| Autosomal recessive nonsyndromic hearing loss 84A | 11 | Dec 15, 2021 |
| Autosomal recessive nonsyndromic hearing loss 84B | 5 | Dec 4, 2021 |
| Autosomal recessive nonsyndromic hearing loss 9 | 8 | Dec 4, 2021 |
| Autosomal recessive nonsyndromic hearing loss 91 | 5 | Jan 10, 2022 |
| Autosomal recessive nonsyndromic hearing loss 93 | 1 | Aug 10, 2021 |
| Autosomal recessive nonsyndromic hearing loss 97 | 5 | Nov 10, 2021 |
| Autosomal recessive omodysplasia | 1 | Sep 21, 2021 |
| Autosomal recessive osteopetrosis 1 | 8 | Jan 25, 2022 |
| Autosomal recessive osteopetrosis 2 | 1 | Feb 21, 2022 |
| Autosomal recessive osteopetrosis 4 | 11 | Aug 2, 2021 |
| Autosomal recessive osteopetrosis 7 | 1 | Feb 21, 2022 |
| Autosomal recessive osteopetrosis 8 | 1 | Jan 12, 2022 |
| Autosomal recessive proximal renal tubular acidosis | 4 | Jan 12, 2022 |
| Autosomal recessive severe congenital neutropenia due to CSF3R deficiency | 2 | Sep 11, 2021 |
| Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency | 1 | Oct 18, 2021 |
| Autosomal recessive spastic paraplegia type 76 | 7 | Aug 10, 2021 |
| Autosomal recessive spastic paraplegia type 78 | 8 | Aug 9, 2021 |
| Autosomal recessive spinocerebellar ataxia 10 | 5 | Aug 9, 2021 |
| Autosomal recessive spinocerebellar ataxia 11 | 1 | Jan 25, 2022 |
| Autosomal recessive spinocerebellar ataxia 12 | 38 | May 15, 2022 |
| Autosomal recessive spinocerebellar ataxia 13 | 5 | Sep 21, 2021 |
| Autosomal recessive spinocerebellar ataxia 14 | 4 | Jan 12, 2022 |
| Autosomal recessive spinocerebellar ataxia 16 | 1 | Aug 2, 2021 |
| Autosomal recessive spinocerebellar ataxia 18 | 2 | Sep 21, 2021 |
| Autosomal recessive spinocerebellar ataxia 2 | 2 | Dec 8, 2021 |
| Autosomal recessive spinocerebellar ataxia 7 | 7 | Aug 23, 2021 |
| Axenfeld-Rieger syndrome type 3 | 1 | Sep 21, 2021 |
| Ayme-Gripp syndrome | 1 | Nov 10, 2021 |
| B4GALT1-congenital disorder of glycosylation | 2 | Aug 9, 2021 |
| BENTA disease | 7 | Aug 10, 2021 |
| Bailey-Bloch congenital myopathy | 1 | Jan 12, 2022 |
| Baller-Gerold syndrome | 12 | Dec 15, 2021 |
| Band heterotopia of brain | 2 | Sep 11, 2021 |
| Baraitser-Winter syndrome 1 | 25 | Jun 7, 2022 |
| Baraitser-winter syndrome 2 | 54 | Jun 7, 2022 |
| Bardet-Biedl syndrome 1 | 10 | Aug 11, 2021 |
| Bardet-Biedl syndrome 10 | 3 | Aug 30, 2021 |
| Bardet-Biedl syndrome 12 | 8 | Aug 11, 2021 |
| Bardet-Biedl syndrome 13 | 10 | Aug 20, 2021 |
| Bardet-Biedl syndrome 14 | 16 | Aug 23, 2021 |
| Bardet-Biedl syndrome 15 | 2 | May 15, 2022 |
| Bardet-Biedl syndrome 16 | 5 | Jan 10, 2022 |
| Bardet-Biedl syndrome 19 | 1 | Sep 21, 2021 |
| Bardet-Biedl syndrome 2 | 13 | Aug 30, 2021 |
| Bardet-Biedl syndrome 22 | 3 | Sep 21, 2021 |
| Bardet-Biedl syndrome 4 | 7 | Aug 9, 2021 |
| Bardet-Biedl syndrome 5 | 1 | Aug 9, 2021 |
| Bardet-Biedl syndrome 7 | 1 | Aug 9, 2021 |
| Bardet-Biedl syndrome 9 | 4 | Aug 9, 2021 |
| Bartsocas-Papas syndrome 1 | 11 | Dec 15, 2021 |
| Bartter disease type 1 | 2 | Jan 10, 2022 |
| Bartter disease type 3 | 24 | Aug 23, 2021 |
| Bartter disease type 4A | 7 | Aug 30, 2021 |
| Bartter disease type 4B | 33 | Aug 23, 2021 |
| Bartter disease type 5 | 4 | Nov 10, 2021 |
| Basal ganglia calcification, idiopathic, 4 | 5 | Dec 4, 2021 |
| Basal ganglia calcification, idiopathic, 7, autosomal recessive | 2 | Oct 18, 2021 |
| Basal laminar drusen | 130 | Dec 17, 2023 |
| Basan syndrome | 4 | Jan 12, 2022 |
| Beaded hair | 1 | May 12, 2021 |
| Beck-Fahrner syndrome | 3 | Feb 21, 2022 |
| Beckwith-Wiedemann syndrome | 1 | Aug 23, 2021 |
| Benign concentric annular macular dystrophy | 1 | Oct 18, 2021 |
| Benign recurrent intrahepatic cholestasis type 2 | 17 | Aug 30, 2021 |
| Beta-D-mannosidosis | 6 | Nov 10, 2021 |
| Beta-hydroxyisobutyryl-CoA deacylase deficiency | 2 | Sep 21, 2021 |
| Bethlem myopathy 1A | 35 | Sep 11, 2021 |
| Bethlem myopathy 2 | 6 | Sep 1, 2021 |
| Bietti crystalline corneoretinal dystrophy | 4 | Sep 11, 2021 |
| Bifunctional peroxisomal enzyme deficiency | 15 | Aug 30, 2021 |
| Bilateral frontoparietal polymicrogyria | 13 | Aug 11, 2021 |
| Bilateral parasagittal parieto-occipital polymicrogyria | 6 | Sep 21, 2021 |
| Bile acid conjugation defect 1 | 2 | Aug 9, 2021 |
| Bile acid malabsorption, primary, 1 | 2 | Jan 10, 2022 |
| Biotin-responsive basal ganglia disease | 1 | Jan 10, 2022 |
| Biotinidase deficiency | 12 | Aug 30, 2021 |
| Birt-Hogg-Dube syndrome | 2 | Sep 21, 2021 |
| Blepharocheilodontic syndrome 1 | 3 | Aug 10, 2021 |
| Blepharocheilodontic syndrome 2 | 1 | Sep 11, 2021 |
| Blepharophimosis - intellectual disability syndrome, MKB type | 6 | Nov 10, 2021 |
| Blepharophimosis-impaired intellectual development syndrome | 5 | Jan 12, 2022 |
| Bloom syndrome | 27 | Aug 30, 2021 |
| Blue color blindness | 1 | Dec 4, 2021 |
| Bohring-Opitz syndrome | 54 | Jun 25, 2022 |
| Bone marrow failure syndrome 4 | 9 | Oct 18, 2023 |
| Borjeson-Forssman-Lehmann syndrome | 1 | Dec 4, 2021 |
| Bothnia retinal dystrophy | 1 | Dec 15, 2021 |
| Bowen-Conradi syndrome | 1 | Sep 11, 2021 |
| Brachycephaly, trichomegaly, and developmental delay | 1 | Dec 15, 2021 |
| Brachydactyly type B1 | 5 | Dec 15, 2021 |
| Brachydactyly type D | 1 | Sep 21, 2021 |
| Brachydactyly type E1 | 1 | Sep 21, 2021 |
| Brachydactyly type E2 | 1 | Dec 15, 2021 |
| Brachydactyly-arterial hypertension syndrome | 4 | Dec 4, 2021 |
| Brachydactyly-elbow wrist dysplasia syndrome | 1 | Dec 4, 2021 |
| Brain abnormalities, neurodegeneration, and dysosteosclerosis | 6 | Sep 11, 2021 |
| Brain dopamine-serotonin vesicular transport disease | 4 | Jan 10, 2022 |
| Brain small vessel disease 1 with or without ocular anomalies | 10 | Sep 1, 2021 |
| Branchiooculofacial syndrome | 1 | Feb 21, 2022 |
| Branchiootic syndrome 1 | 5 | Sep 21, 2021 |
| Branchiootic syndrome 3 | 1 | Jan 10, 2022 |
| Branchiootorenal syndrome 1 | 5 | Sep 21, 2021 |
| Branchiootorenal syndrome 2 | 3 | Jan 10, 2022 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 2 | Jul 6, 2021 |
| Brittle cornea syndrome 1 | 107 | May 15, 2022 |
| Brittle cornea syndrome 2 | 1 | Dec 8, 2021 |
| Bronchiectasis with or without elevated sweat chloride 1 | 2 | Jan 10, 2022 |
| Bronchiectasis with or without elevated sweat chloride 2 | 2 | Jan 10, 2022 |
| Bronchiectasis with or without elevated sweat chloride 3 | 6 | Jan 10, 2022 |
| Brooke-Spiegler syndrome | 1 | Sep 11, 2021 |
| Brown-Vialetto-van Laere syndrome 1 | 8 | Aug 2, 2021 |
| Brown-Vialetto-van Laere syndrome 2 | 1 | Jan 12, 2022 |
| Bruck syndrome 2 | 6 | Dec 8, 2021 |
| Brugada syndrome 7 | 1 | Jan 10, 2022 |
| Brunner syndrome | 3 | Nov 10, 2021 |
| C1Q deficiency | 1 | Aug 10, 2021 |
| CARASIL syndrome | 3 | Sep 21, 2021 |
| CBL-related disorder | 2 | Aug 10, 2021 |
| CEDNIK syndrome | 2 | Jan 12, 2022 |
| CFHR5 deficiency | 42 | Dec 17, 2023 |
| CHARGE syndrome | 12 | Jan 10, 2022 |
| CHIME syndrome | 1 | Dec 4, 2021 |
| CIDEC-related familial partial lipodystrophy | 1 | Aug 23, 2021 |
| CK syndrome | 2 | Dec 4, 2021 |
| COACH syndrome 1 | 2 | Feb 21, 2022 |
| CODAS syndrome | 1 | Oct 18, 2021 |
| COG1 congenital disorder of glycosylation | 7 | Sep 1, 2021 |
| COG4-congenital disorder of glycosylation | 4 | Sep 1, 2021 |
| COG5-congenital disorder of glycosylation | 3 | Sep 1, 2021 |
| COG6-congenital disorder of glycosylation | 3 | Sep 1, 2021 |
| Calcium oxalate urolithiasis | 1 | Jan 10, 2022 |
| Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | 3 | Dec 8, 2021 |
| Camptomelic dysplasia | 2 | Jan 12, 2022 |
| Camptosynpolydactyly, complex | 1 | Aug 2, 2021 |
| Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma | 2 | Dec 15, 2021 |
| Candidiasis, familial, 8 | 1 | Feb 21, 2022 |
| Candidiasis, familial, 9 | 4 | Oct 18, 2021 |
| Capillary malformation-arteriovenous malformation 2 | 5 | Sep 11, 2021 |
| Cardiac arrhythmia | 23 | Dec 15, 2021 |
| Cardiac arrhythmia, ankyrin-B-related | 111 | Jun 7, 2022 |
| Cardiac valvular defect, developmental | 2 | Dec 8, 2021 |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | 5 | Jan 10, 2022 |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 | 2 | Sep 1, 2021 |
| Cardiofaciocutaneous syndrome 3 | 2 | Nov 10, 2021 |
| Cardiofaciocutaneous syndrome 4 | 3 | Nov 10, 2021 |
| Cardiomyopathy, dilated, 2E | 2 | Oct 18, 2021 |
| Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | 8 | Sep 11, 2021 |
| Cardiomyopathy, familial restrictive, 1 | 1 | Feb 21, 2022 |
| Cardiomyopathy, familial restrictive, 3 | 212 | Dec 17, 2023 |
| Carney complex, type 1 | 4 | Dec 8, 2021 |
| Carnitine acylcarnitine translocase deficiency | 1 | Jan 10, 2022 |
| Carnitine palmitoyl transferase 1A deficiency | 19 | Sep 11, 2021 |
| Carnitine palmitoyl transferase II deficiency, myopathic form | 106 | Dec 17, 2023 |
| Carnitine palmitoyl transferase II deficiency, neonatal form | 111 | Dec 17, 2023 |
| Carnitine palmitoyl transferase II deficiency, severe infantile form | 154 | Dec 17, 2023 |
| Cataract 11 multiple types | 1 | Dec 4, 2021 |
| Cataract 12 multiple types | 3 | Aug 9, 2021 |
| Cataract 13 with adult I phenotype | 1 | Sep 21, 2021 |
| Cataract 14 multiple types | 1 | Sep 21, 2021 |
| Cataract 16 multiple types | 1 | Sep 11, 2021 |
| Cataract 18 | 13 | Sep 21, 2021 |
| Cataract 21 multiple types | 1 | Nov 10, 2021 |
| Cataract 22 multiple types | 2 | Sep 11, 2021 |
| Cataract 23 | 2 | Sep 11, 2021 |
| Cataract 3 multiple types | 3 | Sep 11, 2021 |
| Cataract 30 | 1 | May 15, 2022 |
| Cataract 33 | 6 | Aug 9, 2021 |
| Cataract 36 | 2 | Jan 25, 2022 |
| Cataract 39 multiple types | 2 | Sep 11, 2021 |
| Cataract 4 multiple types | 4 | Sep 11, 2021 |
| Cataract 40 | 1 | Nov 24, 2021 |
| Cataract 43 | 1 | May 15, 2022 |
| Cataract 44 | 5 | Nov 10, 2021 |
| Cataract 45 | 2 | Jan 10, 2022 |
| Cataract 48 | 6 | Sep 11, 2021 |
| Cataract 49 | 2 | Oct 18, 2023 |
| Cataract 6 multiple types | 6 | Oct 18, 2023 |
| Cataract 9 multiple types | 1 | Sep 11, 2021 |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 23 | Dec 15, 2021 |
| Catecholaminergic polymorphic ventricular tachycardia 2 | 162 | Oct 18, 2023 |
| Catecholaminergic polymorphic ventricular tachycardia 4 | 2 | Aug 10, 2021 |
| Catecholaminergic polymorphic ventricular tachycardia 5 | 8 | Feb 21, 2022 |
| Catifa syndrome | 4 | Oct 18, 2021 |
| Cayman type cerebellar ataxia | 1 | Aug 9, 2021 |
| Cenani-Lenz syndactyly syndrome | 8 | Oct 18, 2021 |
| Central core myopathy | 31 | Dec 15, 2021 |
| Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | 4 | Dec 15, 2021 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 | 8 | May 15, 2022 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 | 8 | Aug 2, 2021 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 | 4 | Aug 10, 2021 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 | 7 | Aug 9, 2021 |
| Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | 51 | Jun 25, 2022 |
| Cerebellar atrophy, developmental delay, and seizures | 1 | Oct 18, 2021 |
| Cerebellar atrophy, visual impairment, and psychomotor retardation; | 8 | Oct 18, 2023 |
| Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 9 | Oct 18, 2023 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 19 | Nov 24, 2021 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | 3 | Sep 21, 2021 |
| Cerebrooculofacioskeletal syndrome 1 | 8 | Sep 11, 2021 |
| Cerebrooculofacioskeletal syndrome 2 | 6 | Sep 11, 2021 |
| Cerebrooculofacioskeletal syndrome 3 | 2 | Sep 11, 2021 |
| Cerebroretinal microangiopathy with calcifications and cysts 1 | 97 | Jan 10, 2022 |
| Cerebroretinal microangiopathy with calcifications and cysts 2 | 3 | Dec 4, 2021 |
| Channelopathy-associated congenital insensitivity to pain, autosomal recessive | 11 | Jan 10, 2022 |
| Char syndrome | 2 | Feb 21, 2022 |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 1 | Jun 8, 2021 |
| Charcot-Marie-Tooth disease X-linked dominant 6 | 1 | Dec 4, 2021 |
| Charcot-Marie-Tooth disease X-linked recessive 5 | 1 | Dec 8, 2021 |
| Charcot-Marie-Tooth disease axonal type 2CC | 5 | Nov 24, 2021 |
| Charcot-Marie-Tooth disease axonal type 2K | 2 | Sep 21, 2021 |
| Charcot-Marie-Tooth disease axonal type 2N | 1 | Aug 2, 2021 |
| Charcot-Marie-Tooth disease axonal type 2O | 10 | Sep 11, 2021 |
| Charcot-Marie-Tooth disease axonal type 2P | 4 | Nov 10, 2021 |
| Charcot-Marie-Tooth disease axonal type 2Q | 9 | Sep 11, 2021 |
| Charcot-Marie-Tooth disease axonal type 2S | 9 | Oct 12, 2021 |
| Charcot-Marie-Tooth disease axonal type 2V | 4 | Nov 17, 2021 |
| Charcot-Marie-Tooth disease axonal type 2X | 193 | Dec 8, 2022 |
| Charcot-Marie-Tooth disease axonal type 2Z | 20 | Jul 28, 2022 |
| Charcot-Marie-Tooth disease dominant intermediate B | 1 | Sep 11, 2021 |
| Charcot-Marie-Tooth disease dominant intermediate E | 6 | Oct 18, 2021 |
| Charcot-Marie-Tooth disease dominant intermediate F | 1 | Sep 21, 2021 |
| Charcot-Marie-Tooth disease recessive intermediate A | 2 | Sep 21, 2021 |
| Charcot-Marie-Tooth disease recessive intermediate C | 6 | Oct 18, 2023 |
| Charcot-Marie-Tooth disease type 1C | 1 | Oct 18, 2021 |
| Charcot-Marie-Tooth disease type 1D | 1 | Sep 11, 2021 |
| Charcot-Marie-Tooth disease type 2A1 | 4 | Oct 18, 2021 |
| Charcot-Marie-Tooth disease type 2A2 | 1 | Dec 5, 2021 |
| Charcot-Marie-Tooth disease type 2B2 | 1 | Dec 8, 2021 |
| Charcot-Marie-Tooth disease type 2D | 3 | Sep 21, 2021 |
| Charcot-Marie-Tooth disease type 2R | 3 | Feb 21, 2022 |
| Charcot-Marie-Tooth disease type 2Y | 4 | May 15, 2022 |
| Charcot-Marie-Tooth disease type 4A | 2 | Sep 21, 2021 |
| Charcot-Marie-Tooth disease type 4B1 | 2 | Nov 10, 2021 |
| Charcot-Marie-Tooth disease type 4B2 | 4 | Dec 15, 2021 |
| Charcot-Marie-Tooth disease type 4B3 | 13 | Dec 15, 2021 |
| Charcot-Marie-Tooth disease type 4C | 5 | Jan 10, 2022 |
| Charcot-Marie-Tooth disease type 4D | 12 | Jul 31, 2021 |
| Charcot-Marie-Tooth disease type 4E | 1 | Sep 11, 2021 |
| Charcot-Marie-Tooth disease type 4F | 3 | Dec 8, 2021 |
| Charcot-Marie-Tooth disease type 4G | 6 | Sep 21, 2021 |
| Charcot-Marie-Tooth disease type 4H | 6 | Sep 21, 2021 |
| Charcot-Marie-Tooth disease type 4J | 6 | Sep 21, 2021 |
| Charcot-Marie-Tooth disease, axonal, type 2EE | 1 | Jul 28, 2021 |
| Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 2 | Sep 21, 2021 |
| Charcot-Marie-Tooth disease, demyelinating, type 1G | 1 | Dec 8, 2021 |
| Charcot-marie-tooth disease, axonal, type 2DD | 13 | Jun 25, 2022 |
| Charlevoix-Saguenay spastic ataxia | 296 | Nov 24, 2021 |
| Chilblain lupus 2 | 2 | Jul 28, 2021 |
| Child syndrome | 1 | Dec 4, 2021 |
| Childhood hypophosphatasia | 23 | Aug 30, 2021 |
| Childhood onset GLUT1 deficiency syndrome 2 | 147 | Dec 1, 2023 |
| Cholestanol storage disease | 1 | Aug 30, 2021 |
| Cholestasis, intrahepatic, of pregnancy, 1 | 10 | Aug 9, 2021 |
| Cholestasis, intrahepatic, of pregnancy, 3 | 5 | Aug 4, 2021 |
| Cholestasis, progressive familial intrahepatic, 4 | 7 | Feb 21, 2022 |
| Chondrodysplasia Blomstrand type | 2 | Dec 15, 2021 |
| Chondrodysplasia punctata 2 X-linked dominant | 1 | Sep 11, 2021 |
| Chorea, childhood-onset, with psychomotor retardation | 1 | Sep 21, 2021 |
| Chorea-acanthocytosis | 38 | May 15, 2022 |
| Choroidal dystrophy, central areolar 2 | 5 | Dec 8, 2021 |
| Choroidal dystrophy, central areolar, 1 | 2 | Sep 21, 2021 |
| Choroideremia | 1 | Jul 31, 2021 |
| Christianson syndrome | 1 | Jan 12, 2022 |
| Chromosome 1p32-p31 deletion syndrome | 1 | Nov 24, 2021 |
| Chromosome 2q32-q33 deletion syndrome | 2 | Dec 15, 2021 |
| Chronic infantile neurological, cutaneous and articular syndrome | 3 | Nov 24, 2021 |
| Chudley-McCullough syndrome | 3 | Sep 21, 2021 |
| Chylomicron retention disease | 1 | Dec 15, 2021 |
| Ciliary dyskinesia, primary, 37 | 3 | Sep 11, 2021 |
| Ciliary dyskinesia, primary, 38 | 2 | Aug 10, 2021 |
| Ciliary dyskinesia, primary, 39 | 9 | Oct 18, 2021 |
| Ciliary dyskinesia, primary, 40 | 13 | Sep 11, 2021 |
| Ciliary dyskinesia, primary, 42 | 1 | Nov 10, 2021 |
| Ciliary dyskinesia, primary, 44 | 9 | Nov 24, 2021 |
| Ciliary dyskinesia, primary, 45 | 4 | Mar 2, 2022 |
| Ciliary dyskinesia, primary, 47, and lissencephaly | 3 | Oct 18, 2023 |
| Citrullinemia type I | 20 | Aug 30, 2021 |
| Citrullinemia, type II, adult-onset | 5 | Aug 23, 2021 |
| Clark-Baraitser syndrome | 5 | Feb 21, 2022 |
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 5 | Sep 11, 2021 |
| Classic dopamine transporter deficiency syndrome | 3 | Jan 12, 2022 |
| Classic homocystinuria | 11 | Aug 30, 2021 |
| Cleft lip/palate-ectodermal dysplasia syndrome | 1 | Dec 15, 2021 |
| Clubfoot | 1 | Dec 4, 2021 |
| Cobalamin C disease | 130 | Dec 17, 2023 |
| Cobblestone lissencephaly without muscular or ocular involvement | 1 | Oct 18, 2021 |
| Cockayne syndrome type 1 | 1 | Sep 11, 2021 |
| Cockayne syndrome type 2 | 7 | Sep 11, 2021 |
| Coenzyme Q10 deficiency, primary, 1 | 3 | Sep 11, 2021 |
| Coenzyme Q10 deficiency, primary, 3 | 1 | Dec 4, 2021 |
| Coffin-Lowry syndrome | 1 | Dec 15, 2021 |
| Coffin-Siris syndrome 1 | 106 | Jan 10, 2022 |
| Coffin-Siris syndrome 11 | 1 | Jan 12, 2022 |
| Coffin-Siris syndrome 8 | 1 | Jan 12, 2022 |
| Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome | 16 | Jun 7, 2022 |
| Cognitive impairment with or without cerebellar ataxia | 8 | Jan 10, 2022 |
| Cohen syndrome | 49 | Sep 1, 2021 |
| Cohen-Gibson syndrome | 2 | Sep 11, 2021 |
| Cole-Carpenter syndrome 2 | 4 | Jan 10, 2022 |
| Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome | 1 | Jan 10, 2022 |
| Combined PSAP deficiency | 11 | Dec 8, 2021 |
| Combined deficiency of sialidase AND beta galactosidase | 6 | Sep 11, 2021 |
| Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | 3 | Nov 10, 2021 |
| Combined immunodeficiency due to DOCK8 deficiency | 27 | Sep 11, 2021 |
| Combined immunodeficiency due to GINS1 deficiency | 1 | Sep 21, 2021 |
| Combined immunodeficiency due to LRBA deficiency | 2 | Oct 18, 2021 |
| Combined immunodeficiency due to OX40 deficiency | 2 | Feb 21, 2022 |
| Combined immunodeficiency due to STIM1 deficiency | 3 | Jan 12, 2022 |
| Combined immunodeficiency due to STK4 deficiency | 2 | Jan 25, 2022 |
| Combined immunodeficiency with faciooculoskeletal anomalies | 2 | Dec 4, 2021 |
| Combined immunodeficiency with skin granulomas | 6 | Dec 15, 2021 |
| Combined immunodeficiency, X-linked | 3 | Aug 15, 2021 |
| Combined malonic and methylmalonic acidemia | 37 | Aug 30, 2021 |
| Combined oxidative phosphorylation defect type 11 | 3 | Dec 15, 2021 |
| Combined oxidative phosphorylation defect type 13 | 6 | Dec 8, 2021 |
| Combined oxidative phosphorylation defect type 14 | 1 | Sep 21, 2021 |
| Combined oxidative phosphorylation defect type 17 | 9 | Sep 11, 2021 |
| Combined oxidative phosphorylation defect type 20 | 7 | May 15, 2022 |
| Combined oxidative phosphorylation defect type 21 | 1 | Jan 25, 2022 |
| Combined oxidative phosphorylation defect type 23 | 4 | Sep 21, 2021 |
| Combined oxidative phosphorylation defect type 24 | 2 | Nov 17, 2021 |
| Combined oxidative phosphorylation defect type 27 | 6 | Aug 10, 2021 |
| Combined oxidative phosphorylation defect type 4 | 3 | May 15, 2022 |
| Combined oxidative phosphorylation defect type 8 | 9 | Aug 2, 2021 |
| Combined oxidative phosphorylation deficiency 19 | 1 | Nov 10, 2021 |
| Combined oxidative phosphorylation deficiency 28 | 4 | Jan 10, 2022 |
| Combined oxidative phosphorylation deficiency 29 | 1 | May 15, 2022 |
| Combined oxidative phosphorylation deficiency 32 | 1 | Aug 2, 2021 |
| Combined oxidative phosphorylation deficiency 34 | 3 | Nov 10, 2021 |
| Combined oxidative phosphorylation deficiency 35 | 2 | Oct 18, 2023 |
| Combined oxidative phosphorylation deficiency 40 | 3 | Dec 15, 2021 |
| Combined oxidative phosphorylation deficiency 41 | 2 | Dec 4, 2021 |
| Combined oxidative phosphorylation deficiency 43 | 1 | Feb 21, 2022 |
| Combined oxidative phosphorylation deficiency 44 | 1 | Sep 21, 2021 |
| Complement component 3 deficiency | 23 | Aug 10, 2021 |
| Complement factor b deficiency | 2 | Aug 23, 2021 |
| Complex cortical dysplasia with other brain malformations 3 | 2 | Oct 18, 2021 |
| Complex cortical dysplasia with other brain malformations 4 | 1 | May 15, 2022 |
| Complex cortical dysplasia with other brain malformations 5 | 1 | May 15, 2022 |
| Complex lethal osteochondrodysplasia | 1 | Jan 25, 2022 |
| Compton-North congenital myopathy | 1 | Sep 1, 2021 |
| Cone dystrophy 4 | 2 | Dec 4, 2021 |
| Cone dystrophy with supernormal rod response | 2 | Oct 18, 2021 |
| Cone monochromatism | 2 | Dec 4, 2021 |
| Cone-rod dystrophy 10 | 38 | Oct 18, 2023 |
| Cone-rod dystrophy 12 | 5 | Dec 8, 2021 |
| Cone-rod dystrophy 13 | 75 | Dec 29, 2021 |
| Cone-rod dystrophy 15 | 6 | Aug 23, 2021 |
| Cone-rod dystrophy 19 | 2 | Mar 2, 2022 |
| Cone-rod dystrophy 2 | 1 | Aug 2, 2021 |
| Cone-rod dystrophy 20 | 2 | Dec 8, 2021 |
| Cone-rod dystrophy 21 | 2 | Sep 11, 2021 |
| Cone-rod dystrophy 3 | 17 | Aug 4, 2021 |
| Cone-rod dystrophy 5 | 4 | Dec 4, 2021 |
| Cone-rod dystrophy 6 | 2 | Sep 21, 2021 |
| Cone-rod dystrophy 7 | 3 | Dec 15, 2021 |
| Cone-rod dystrophy 9 | 2 | Aug 4, 2021 |
| Cone-rod synaptic disorder, congenital nonprogressive | 3 | Aug 10, 2021 |
| Congenital adrenal hypoplasia, X-linked | 2 | Dec 4, 2021 |
| Congenital afibrinogenemia | 4 | Sep 21, 2021 |
| Congenital amegakaryocytic thrombocytopenia | 4 | Nov 9, 2021 |
| Congenital anomalies of kidney and urinary tract 1 | 2 | Sep 11, 2021 |
| Congenital anomalies of kidney and urinary tract 2 | 1 | Jan 25, 2022 |
| Congenital anomalies of kidney and urinary tract 3 | 1 | Dec 4, 2021 |
| Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | 1 | Dec 4, 2021 |
| Congenital bilateral aplasia of vas deferens from CFTR mutation | 31 | Jul 15, 2024 |
| Congenital bile acid synthesis defect 1 | 2 | Sep 21, 2021 |
| Congenital bile acid synthesis defect 3 | 1 | Sep 11, 2021 |
| Congenital bile acid synthesis defect 4 | 6 | Aug 4, 2021 |
| Congenital bile acid synthesis defect 5 | 2 | Aug 4, 2021 |
| Congenital bile acid synthesis defect 6 | 2 | Aug 4, 2021 |
| Congenital brain dysgenesis due to glutamine synthetase deficiency | 2 | Sep 21, 2021 |
| Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | 1 | Aug 2, 2021 |
| Congenital cataracts-facial dysmorphism-neuropathy syndrome | 2 | Sep 11, 2021 |
| Congenital cerebellar hypoplasia | 1 | Dec 4, 2021 |
| Congenital contractural arachnodactyly | 4 | Sep 21, 2021 |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | 5 | Nov 17, 2021 |
| Congenital diarrhea 5 with tufting enteropathy | 1 | Sep 11, 2021 |
| Congenital diarrhea 6 | 6 | Sep 21, 2021 |
| Congenital disorder of deglycosylation | 1 | Nov 24, 2021 |
| Congenital disorder of glycosylation type Ir | 4 | Sep 11, 2021 |
| Congenital disorder of glycosylation with defective fucosylation 1 | 2 | Sep 21, 2021 |
| Congenital disorder of glycosylation with defective fucosylation 2 | 1 | Sep 21, 2021 |
| Congenital disorder of glycosylation, type IAA | 1 | Dec 4, 2021 |
| Congenital disorder of glycosylation, type IIr | 1 | Aug 9, 2021 |
| Congenital dyserythropoietic anemia type type 1B | 7 | Aug 10, 2021 |
| Congenital dyserythropoietic anemia, type II | 6 | Jan 10, 2022 |
| Congenital fibrosis of extraocular muscles type 1 | 1 | Oct 18, 2021 |
| Congenital generalized lipodystrophy type 1 | 3 | Aug 4, 2021 |
| Congenital generalized lipodystrophy type 2 | 4 | Aug 9, 2021 |
| Congenital generalized lipodystrophy type 3 | 1 | Aug 10, 2021 |
| Congenital glucose-galactose malabsorption | 1 | Jan 12, 2022 |
| Congenital heart defects and ectodermal dysplasia | 4 | Dec 8, 2021 |
| Congenital heart defects, multiple types, 5 | 3 | Sep 21, 2021 |
| Congenital heart defects, multiple types, 7 | 9 | Sep 21, 2021 |
| Congenital hereditary endothelial dystrophy of cornea | 24 | Jan 12, 2022 |
| Congenital hyperammonemia, type I | 20 | Sep 11, 2021 |
| Congenital hypotrichosis with juvenile macular dystrophy | 9 | Aug 10, 2021 |
| Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome | 1 | Sep 11, 2021 |
| Congenital insensitivity to pain-hypohidrosis syndrome | 2 | Dec 8, 2021 |
| Congenital isolated adrenocorticotropic hormone deficiency | 2 | Jan 25, 2022 |
| Congenital lactase deficiency | 7 | Oct 18, 2021 |
| Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 26 | Aug 20, 2021 |
| Congenital lipoid adrenal hyperplasia due to STAR deficency | 4 | Jan 12, 2022 |
| Congenital malabsorptive diarrhea 4 | 1 | Nov 24, 2021 |
| Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | 7 | Aug 11, 2021 |
| Congenital microvillous atrophy | 10 | Nov 17, 2021 |
| Congenital multicore myopathy with external ophthalmoplegia | 31 | Dec 15, 2021 |
| Congenital muscular dystrophy due to integrin alpha-7 deficiency | 7 | Oct 18, 2021 |
| Congenital muscular dystrophy with cataracts and intellectual disability | 2 | Aug 2, 2021 |
| Congenital muscular dystrophy with intellectual disability and severe epilepsy | 2 | Sep 11, 2021 |
| Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome | 2 | Feb 21, 2022 |
| Congenital muscular hypertrophy-cerebral syndrome | 1 | Jan 12, 2022 |
| Congenital myasthenic syndrome 10 | 3 | Sep 11, 2021 |
| Congenital myasthenic syndrome 11 | 8 | Dec 15, 2021 |
| Congenital myasthenic syndrome 12 | 3 | Sep 21, 2021 |
| Congenital myasthenic syndrome 13 | 1 | Sep 11, 2021 |
| Congenital myasthenic syndrome 15 | 17 | Oct 18, 2023 |
| Congenital myasthenic syndrome 17 | 8 | Oct 18, 2021 |
| Congenital myasthenic syndrome 18 | 1 | Jan 12, 2022 |
| Congenital myasthenic syndrome 19 | 8 | Sep 1, 2021 |
| Congenital myasthenic syndrome 1A | 4 | Aug 23, 2021 |
| Congenital myasthenic syndrome 20 | 1 | Jan 12, 2022 |
| Congenital myasthenic syndrome 21 | 1 | Jan 10, 2022 |
| Congenital myasthenic syndrome 2A | 2 | Aug 23, 2021 |
| Congenital myasthenic syndrome 2C | 2 | Aug 23, 2021 |
| Congenital myasthenic syndrome 4A | 8 | Jul 25, 2021 |
| Congenital myasthenic syndrome 4B | 7 | Jul 25, 2021 |
| Congenital myasthenic syndrome 4C | 7 | Jul 25, 2021 |
| Congenital myasthenic syndrome 5 | 5 | Sep 11, 2021 |
| Congenital myasthenic syndrome 7 | 3 | Jan 25, 2022 |
| Congenital myasthenic syndrome 8 | 20 | Oct 18, 2023 |
| Congenital myasthenic syndrome 9 | 2 | Nov 10, 2021 |
| Congenital myopathy 18 | 338 | Dec 17, 2023 |
| Congenital myopathy 4B, autosomal recessive | 1 | Feb 21, 2022 |
| Congenital myopathy with fiber type disproportion | 2 | Feb 21, 2022 |
| Congenital myopathy with internal nuclei and atypical cores | 5 | Aug 2, 2021 |
| Congenital myotonia, autosomal dominant form | 10 | Aug 23, 2021 |
| Congenital myotonia, autosomal recessive form | 10 | Aug 23, 2021 |
| Congenital nonprogressive myopathy with Moebius and Robin sequences | 3 | Feb 21, 2022 |
| Congenital primary aphakia | 1 | Oct 18, 2023 |
| Congenital prothrombin deficiency | 1 | Sep 21, 2021 |
| Congenital reticular ichthyosiform erythroderma | 1 | Oct 18, 2021 |
| Congenital secretory diarrhea, chloride type | 1 | Jan 12, 2022 |
| Congenital secretory sodium diarrhea 8 | 9 | Jan 12, 2022 |
| Congenital sensory neuropathy with selective loss of small myelinated fibers | 31 | Oct 18, 2023 |
| Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | 4 | Feb 21, 2022 |
| Congenital stationary night blindness 1B | 8 | Sep 21, 2021 |
| Congenital stationary night blindness 1C | 8 | Feb 21, 2022 |
| Congenital stationary night blindness 1D | 1 | Jan 10, 2022 |
| Congenital stationary night blindness 1F | 2 | Oct 18, 2021 |
| Congenital stationary night blindness 1H | 1 | Sep 21, 2021 |
| Congenital stationary night blindness 2A | 5 | Aug 10, 2021 |
| Congenital stationary night blindness autosomal dominant 2 | 3 | Sep 21, 2021 |
| Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | 22 | Nov 17, 2021 |
| Contractures, pterygia, and variable skeletal fusions syndrome 1B | 22 | Nov 17, 2021 |
| Cornea plana 2 | 1 | Oct 18, 2021 |
| Corneal dystrophy, Fuchs endothelial, 1 | 2 | Sep 11, 2021 |
| Corneal dystrophy, Fuchs endothelial, 3 | 3 | Jan 25, 2022 |
| Corneal dystrophy, Meesmann, 1 | 1 | Oct 18, 2021 |
| Corneal dystrophy, posterior polymorphous, 4 | 3 | Sep 21, 2021 |
| Corneal dystrophy-perceptive deafness syndrome | 25 | Jan 12, 2022 |
| Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome | 3 | Nov 24, 2021 |
| Cornelia de Lange syndrome 1 | 115 | Jan 10, 2022 |
| Cornelia de Lange syndrome 3 | 2 | Jan 12, 2022 |
| Cornelia de Lange syndrome 4 | 3 | Dec 15, 2021 |
| Cornelia de Lange syndrome 5 | 1 | Sep 21, 2021 |
| Cortical dysplasia, complex, with other brain malformations 10 | 2 | Aug 2, 2021 |
| Cortical dysplasia, complex, with other brain malformations 9 | 2 | Sep 11, 2021 |
| Cortical dysplasia-focal epilepsy syndrome | 6 | Sep 1, 2021 |
| Corticosterone 18-monooxygenase deficiency | 22 | Jul 7, 2021 |
| Corticosterone methyloxidase type 2 deficiency | 21 | Jul 7, 2021 |
| Cortisone reductase deficiency 1 | 5 | Oct 18, 2023 |
| Costello syndrome | 1 | Sep 21, 2021 |
| Cowden syndrome 1 | 1 | Dec 8, 2021 |
| Cowden syndrome 7 | 6 | Jan 10, 2022 |
| Coxopodopatellar syndrome | 1 | Jan 25, 2022 |
| Cranioectodermal dysplasia 1 | 5 | Sep 21, 2021 |
| Cranioectodermal dysplasia 2 | 6 | May 15, 2022 |
| Cranioectodermal dysplasia 4 | 21 | May 15, 2022 |
| Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 | 1 | Feb 21, 2022 |
| Craniofacial dysplasia - osteopenia syndrome | 1 | Oct 18, 2021 |
| Craniofacial-deafness-hand syndrome | 1 | Dec 4, 2021 |
| Craniofrontonasal syndrome | 1 | Sep 11, 2021 |
| Craniolenticulosutural dysplasia | 4 | Jan 10, 2022 |
| Craniometaphyseal dysplasia, autosomal dominant | 33 | Jun 7, 2022 |
| Craniosynostosis 2 | 1 | Nov 10, 2021 |
| Creatine transporter deficiency | 3 | Jan 12, 2022 |
| Cryptorchidism | 2 | Oct 18, 2021 |
| Curry-Hall syndrome | 23 | Sep 11, 2021 |
| Cutaneous porphyria | 2 | May 15, 2022 |
| Cutis laxa with osteodystrophy | 7 | Aug 9, 2021 |
| Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | 7 | Nov 10, 2021 |
| Cutis laxa, X-linked | 4 | Aug 11, 2021 |
| Cutis laxa, autosomal dominant 1 | 3 | Sep 11, 2021 |
| Cutis laxa, autosomal dominant 2 | 1 | Sep 21, 2021 |
| Cutis laxa, autosomal dominant 3 | 7 | Aug 4, 2021 |
| Cutis laxa, autosomal recessive, type 1A | 1 | Sep 21, 2021 |
| Cutis laxa, autosomal recessive, type 1B | 4 | Sep 11, 2021 |
| Cystathioninuria | 3 | Oct 18, 2023 |
| Cystic fibrosis | 387 | Dec 4, 2023 |
| Cystinuria | 4 | Jan 12, 2022 |
| D-2-hydroxyglutaric aciduria 1 | 7 | Sep 11, 2021 |
| DE SANCTIS-CACCHIONE SYNDROME | 7 | Sep 11, 2021 |
| DICER1-related tumor predisposition | 3 | Sep 11, 2021 |
| DNA ligase IV deficiency | 1 | Oct 18, 2021 |
| DOCK2 deficiency | 8 | Sep 11, 2021 |
| DPAGT1-congenital disorder of glycosylation | 1 | Sep 11, 2021 |
| Dalmatian hypouricemia | 6 | Jan 10, 2022 |
| Danon disease | 1 | Oct 18, 2021 |
| Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | 3 | Sep 11, 2021 |
| Deafness, congenital heart defects, and posterior embryotoxon | 5 | Oct 18, 2021 |
| Deafness-encephaloneuropathy-obesity-valvulopathy syndrome | 6 | Dec 4, 2021 |
| Deafness-lymphedema-leukemia syndrome | 3 | Sep 21, 2021 |
| Deeah syndrome | 3 | Nov 10, 2021 |
| Deficiency of 2-methylbutyryl-CoA dehydrogenase | 4 | Aug 4, 2021 |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 7 | Aug 30, 2021 |
| Deficiency of acetyl-CoA acetyltransferase | 13 | Aug 11, 2021 |
| Deficiency of alpha-mannosidase | 123 | Nov 24, 2021 |
| Deficiency of aromatic-L-amino-acid decarboxylase | 5 | Sep 11, 2021 |
| Deficiency of butyryl-CoA dehydrogenase | 50 | Dec 15, 2021 |
| Deficiency of ferroxidase | 3 | Sep 11, 2021 |
| Deficiency of galactokinase | 10 | Aug 30, 2021 |
| Deficiency of guanidinoacetate methyltransferase | 3 | Jul 25, 2021 |
| Deficiency of hyaluronoglucosaminidase | 1 | Sep 21, 2021 |
| Deficiency of hydroxymethylglutaryl-CoA lyase | 58 | Dec 1, 2023 |
| Deficiency of malonyl-CoA decarboxylase | 1 | Nov 10, 2021 |
| Deficiency of phosphoserine phosphatase | 2 | May 12, 2021 |
| Deficiency of steroid 11-beta-monooxygenase | 4 | Sep 11, 2021 |
| Deficiency of steroid 17-alpha-monooxygenase | 8 | Jul 14, 2021 |
| Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | 34 | Dec 4, 2021 |
| Dejerine-Sottas disease | 4 | Dec 8, 2021 |
| Denticles | 3 | Sep 11, 2021 |
| Dentinogenesis imperfecta type 2 | 3 | Sep 11, 2021 |
| Dentinogenesis imperfecta type 3 | 3 | Sep 11, 2021 |
| Desbuquois dysplasia 2 | 15 | May 15, 2022 |
| Desmin-related myofibrillar myopathy | 3 | Sep 11, 2021 |
| Desmosterolosis | 2 | Sep 11, 2021 |
| Developmental and epileptic encephalopathy 89 | 1 | Sep 21, 2021 |
| Developmental and epileptic encephalopathy 94 | 10 | Aug 23, 2021 |
| Developmental and epileptic encephalopathy 98 | 68 | Jun 25, 2022 |
| Developmental and epileptic encephalopathy 99 | 49 | Jun 25, 2022 |
| Developmental and epileptic encephalopathy, 11 | 6 | Jan 10, 2022 |
| Developmental and epileptic encephalopathy, 12 | 12 | Dec 4, 2021 |
| Developmental and epileptic encephalopathy, 13 | 8 | Jan 10, 2022 |
| Developmental and epileptic encephalopathy, 14 | 306 | Jul 28, 2022 |
| Developmental and epileptic encephalopathy, 15 | 3 | Oct 18, 2023 |
| Developmental and epileptic encephalopathy, 17 | 2 | Sep 21, 2021 |
| Developmental and epileptic encephalopathy, 18 | 524 | Dec 17, 2023 |
| Developmental and epileptic encephalopathy, 19 | 2 | Sep 21, 2021 |
| Developmental and epileptic encephalopathy, 2 | 1 | Aug 23, 2021 |
| Developmental and epileptic encephalopathy, 23 | 142 | Dec 17, 2023 |
| Developmental and epileptic encephalopathy, 25 | 51 | Jan 10, 2022 |
| Developmental and epileptic encephalopathy, 27 | 4 | Sep 21, 2021 |
| Developmental and epileptic encephalopathy, 28 | 38 | May 15, 2022 |
| Developmental and epileptic encephalopathy, 29 | 1 | Aug 2, 2021 |
| Developmental and epileptic encephalopathy, 30 | 11 | Jan 10, 2022 |
| Developmental and epileptic encephalopathy, 31A | 1 | Sep 11, 2021 |
| Developmental and epileptic encephalopathy, 33 | 2 | Sep 11, 2021 |
| Developmental and epileptic encephalopathy, 34 | 3 | Jan 10, 2022 |
| Developmental and epileptic encephalopathy, 35 | 3 | Oct 18, 2021 |
| Developmental and epileptic encephalopathy, 36 | 49 | Jun 7, 2022 |
| Developmental and epileptic encephalopathy, 37 | 2 | Sep 21, 2021 |
| Developmental and epileptic encephalopathy, 38 | 1 | Aug 9, 2021 |
| Developmental and epileptic encephalopathy, 39 | 2 | Jan 10, 2022 |
| Developmental and epileptic encephalopathy, 40 | 6 | Sep 21, 2021 |
| Developmental and epileptic encephalopathy, 41 | 6 | Jan 10, 2022 |
| Developmental and epileptic encephalopathy, 42 | 20 | Aug 10, 2021 |
| Developmental and epileptic encephalopathy, 43 | 1 | Sep 21, 2021 |
| Developmental and epileptic encephalopathy, 44 | 1 | May 15, 2022 |
| Developmental and epileptic encephalopathy, 45 | 2 | Sep 21, 2021 |
| Developmental and epileptic encephalopathy, 46 | 2 | Sep 21, 2021 |
| Developmental and epileptic encephalopathy, 47 | 2 | Sep 21, 2021 |
| Developmental and epileptic encephalopathy, 49 | 3 | Sep 11, 2021 |
| Developmental and epileptic encephalopathy, 5 | 228 | Jan 12, 2022 |
| Developmental and epileptic encephalopathy, 50 | 1 | Aug 10, 2021 |
| Developmental and epileptic encephalopathy, 53 | 3 | Jan 25, 2022 |
| Developmental and epileptic encephalopathy, 54 | 1 | Sep 21, 2021 |
| Developmental and epileptic encephalopathy, 57 | 1 | Oct 18, 2021 |
| Developmental and epileptic encephalopathy, 58 | 2 | Dec 4, 2021 |
| Developmental and epileptic encephalopathy, 59 | 4 | Sep 21, 2021 |
| Developmental and epileptic encephalopathy, 61 | 3 | Aug 4, 2021 |
| Developmental and epileptic encephalopathy, 62 | 8 | Jan 10, 2022 |
| Developmental and epileptic encephalopathy, 63 | 2 | Aug 2, 2021 |
| Developmental and epileptic encephalopathy, 64 | 3 | Dec 15, 2021 |
| Developmental and epileptic encephalopathy, 65 | 6 | Sep 11, 2021 |
| Developmental and epileptic encephalopathy, 67 | 2 | Sep 11, 2021 |
| Developmental and epileptic encephalopathy, 68 | 9 | Feb 21, 2022 |
| Developmental and epileptic encephalopathy, 69 | 169 | Dec 17, 2023 |
| Developmental and epileptic encephalopathy, 7 | 3 | Oct 18, 2021 |
| Developmental and epileptic encephalopathy, 73 | 1 | Dec 15, 2021 |
| Developmental and epileptic encephalopathy, 74 | 1 | Sep 21, 2021 |
| Developmental and epileptic encephalopathy, 76 | 1 | Aug 4, 2021 |
| Developmental and epileptic encephalopathy, 77 | 18 | Aug 2, 2021 |
| Developmental and epileptic encephalopathy, 79 | 4 | Sep 21, 2021 |
| Developmental and epileptic encephalopathy, 80 | 3 | Dec 4, 2021 |
| Developmental and epileptic encephalopathy, 81 | 12 | Sep 11, 2021 |
| Developmental and epileptic encephalopathy, 82 | 4 | Sep 21, 2021 |
| Developmental and epileptic encephalopathy, 83 | 1 | May 15, 2022 |
| Developmental and epileptic encephalopathy, 85, with or without midline brain defects | 1 | Jan 12, 2022 |
| Developmental and epileptic encephalopathy, 9 | 1 | Dec 4, 2021 |
| Developmental delay and seizures with or without movement abnormalities | 1 | Jul 17, 2021 |
| Developmental delay with autism spectrum disorder and gait instability | 5 | Sep 21, 2021 |
| Developmental delay with or without dysmorphic facies and autism | 2 | Feb 21, 2022 |
| Developmental delay with short stature, dysmorphic facial features, and sparse hair | 3 | Aug 2, 2021 |
| Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities | 3 | Jan 12, 2022 |
| Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy | 20 | Jul 28, 2022 |
| Developmental malformations-deafness-dystonia syndrome | 25 | Jun 7, 2022 |
| Diabetes insipidus, nephrogenic, X-linked | 2 | Aug 9, 2021 |
| Diabetes insipidus, nephrogenic, autosomal | 15 | Jun 25, 2022 |
| Diabetes mellitus, permanent neonatal 3 | 2 | Aug 30, 2021 |
| Diabetes mellitus, permanent neonatal 4 | 1 | Aug 2, 2021 |
| Diabetes mellitus, transient neonatal, 1 | 1 | May 15, 2022 |
| Diamond-Blackfan anemia 10 | 1 | Dec 15, 2021 |
| Diamond-Blackfan anemia 14 with mandibulofacial dysostosis | 1 | May 17, 2021 |
| Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | 1 | Dec 15, 2021 |
| Diamond-Blackfan anemia 16 | 1 | Dec 15, 2021 |
| Diamond-Blackfan anemia 17 | 1 | Dec 15, 2021 |
| Diamond-Blackfan anemia 3 | 1 | Dec 15, 2021 |
| Diamond-Blackfan anemia 7 | 1 | Dec 15, 2021 |
| Diamond-Blackfan anemia 8 | 1 | Dec 15, 2021 |
| Diaphanospondylodysostosis | 3 | Aug 9, 2021 |
| Diaphyseal dysplasia | 2 | Feb 21, 2022 |
| Diastrophic dysplasia | 7 | Sep 1, 2021 |
| Dicarboxylic aminoaciduria | 1 | Jan 10, 2022 |
| Diencephalic-mesencephalic junction dysplasia syndrome 1 | 8 | Dec 4, 2021 |
| Diencephalic-mesencephalic junction dysplasia syndrome 2 | 3 | Sep 21, 2021 |
| Diets-Jongmans syndrome | 4 | Oct 18, 2021 |
| Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | 2 | Dec 15, 2021 |
| Dihydropteridine reductase deficiency | 2 | Dec 15, 2021 |
| Dihydropyrimidine dehydrogenase deficiency | 55 | Oct 18, 2023 |
| Dilated cardiomyopathy 1C | 1 | Oct 18, 2021 |
| Dilated cardiomyopathy 1D | 212 | Dec 17, 2023 |
| Dilated cardiomyopathy 1DD | 5 | Dec 15, 2021 |
| Dilated cardiomyopathy 1GG | 4 | Aug 2, 2021 |
| Dilated cardiomyopathy 1I | 3 | Sep 11, 2021 |
| Dilated cardiomyopathy 1J | 2 | Sep 21, 2021 |
| Dilated cardiomyopathy 1JJ | 12 | Oct 18, 2021 |
| Dilated cardiomyopathy 1KK | 10 | Nov 17, 2021 |
| Dilated cardiomyopathy 1L | 145 | May 28, 2023 |
| Dilated cardiomyopathy 1S | 2 | Nov 17, 2021 |
| Dilated cardiomyopathy 1U | 1 | Dec 8, 2021 |
| Dilated cardiomyopathy 1V | 8 | Dec 8, 2021 |
| Dilated cardiomyopathy 1X | 2 | Sep 21, 2021 |
| Dilated cardiomyopathy 1Y | 2 | Feb 21, 2022 |
| Dilated cardiomyopathy 2A | 1 | Feb 21, 2022 |
| Dilated cardiomyopathy 3B | 17 | Sep 11, 2021 |
| Distal arthrogryposis type 2B1 | 2 | Aug 2, 2021 |
| Distal arthrogryposis type 5D | 4 | Sep 11, 2021 |
| Distal myopathy with anterior tibial onset | 40 | Sep 11, 2021 |
| Donnai-Barrow syndrome | 193 | Jan 10, 2022 |
| Dowling-Degos disease 2 | 1 | Dec 8, 2021 |
| Dowling-Degos disease 4 | 2 | Dec 8, 2021 |
| Doyne honeycomb retinal dystrophy | 4 | Sep 11, 2021 |
| Drash syndrome | 18 | May 15, 2022 |
| Duane retraction syndrome 2 | 1 | Aug 23, 2021 |
| Duane-radial ray syndrome | 4 | Dec 15, 2021 |
| Dubin-Johnson syndrome | 5 | Aug 4, 2021 |
| Duchenne muscular dystrophy | 26 | Sep 11, 2021 |
| Dyschromatosis universalis hereditaria 1 | 2 | Dec 15, 2021 |
| Dyskeratosis congenita, X-linked | 3 | Sep 11, 2021 |
| Dyskeratosis congenita, autosomal dominant 2 | 2 | Feb 21, 2022 |
| Dyskeratosis congenita, autosomal dominant 6 | 11 | Jun 7, 2022 |
| Dyskeratosis congenita, autosomal recessive 1 | 1 | Nov 24, 2021 |
| Dyskeratosis congenita, autosomal recessive 5 | 21 | Jul 28, 2021 |
| Dyskinesia with orofacial involvement, autosomal dominant | 35 | Jun 7, 2022 |
| Dyskinesia with orofacial involvement, autosomal recessive | 26 | Jun 7, 2022 |
| Dystonia 12 | 51 | Jun 25, 2022 |
| Dystonia 24 | 41 | Jun 25, 2022 |
| Dystonia 25 | 2 | Sep 21, 2021 |
| Dystonia 27 | 10 | Sep 11, 2021 |
| Dystonia 28, childhood-onset | 6 | Oct 18, 2021 |
| Dystonia 32 | 5 | May 15, 2022 |
| Dystonia 5 | 1 | Sep 21, 2021 |
| Dystonia 9 | 147 | Dec 1, 2023 |
| Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 3 | Nov 10, 2021 |
| EEM syndrome | 9 | Aug 10, 2021 |
| Early-onset Lafora body disease | 1 | Dec 8, 2021 |
| Early-onset Parkinson disease 20 | 3 | Jan 25, 2022 |
| Early-onset myopathy with fatal cardiomyopathy | 635 | Mar 2, 2022 |
| Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | 12 | Jan 25, 2022 |
| Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | 5 | Feb 21, 2022 |
| Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome | 1 | May 15, 2022 |
| Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | 6 | Sep 11, 2021 |
| Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | 6 | Sep 11, 2021 |
| Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant | 3 | Sep 11, 2021 |
| Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | 3 | Sep 11, 2021 |
| Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type | 1 | Oct 18, 2023 |
| Ectodermal dysplasia 9, hair/nail type | 1 | Sep 21, 2021 |
| Ectodermal dysplasia and immunodeficiency 2 | 1 | Nov 24, 2021 |
| Ectopia lentis 2, isolated, autosomal recessive | 105 | Oct 18, 2023 |
| Ectopia lentis et pupillae | 109 | Oct 18, 2023 |
| Ehlers-Danlos syndrome due to tenascin-X deficiency | 9 | Feb 21, 2022 |
| Ehlers-Danlos syndrome progeroid type | 4 | Aug 9, 2021 |
| Ehlers-Danlos syndrome, arthrochalasia type | 9 | Sep 1, 2021 |
| Ehlers-Danlos syndrome, classic type, 1 | 184 | Jul 28, 2022 |
| Ehlers-Danlos syndrome, classic type, 2 | 8 | Sep 11, 2021 |
| Ehlers-Danlos syndrome, classic-like, 2 | 5 | Aug 4, 2021 |
| Ehlers-Danlos syndrome, dermatosparaxis type | 29 | Aug 4, 2021 |
| Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 2 | Dec 8, 2021 |
| Ehlers-Danlos syndrome, musculocontractural type 2 | 2 | Sep 11, 2021 |
| Ehlers-Danlos syndrome, spondylocheirodysplastic type | 2 | Jan 12, 2022 |
| Ehlers-Danlos syndrome, type 4 | 8 | Sep 1, 2021 |
| Ehlers-danlos syndrome, arthrochalasia type, 2 | 4 | Sep 1, 2021 |
| Eichsfeld type congenital muscular dystrophy | 5 | Jan 10, 2022 |
| Eiken syndrome | 2 | Dec 15, 2021 |
| Elliptocytosis 1 | 1 | Oct 18, 2023 |
| Elliptocytosis 2 | 22 | Jan 12, 2022 |
| Ellis-van Creveld syndrome | 31 | Sep 11, 2021 |
| Elsahy-Waters syndrome | 8 | Aug 10, 2021 |
| Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 31 | Jan 25, 2022 |
| Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 24 | Jan 25, 2022 |
| Emery-Dreifuss muscular dystrophy 7, autosomal dominant | 3 | Feb 21, 2022 |
| Encephalopathy due to GLUT1 deficiency | 209 | Dec 1, 2023 |
| Encephalopathy, acute, infection-induced, susceptibility to, 4 | 104 | Dec 17, 2023 |
| Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | 6 | Sep 11, 2021 |
| Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | 3 | Oct 18, 2021 |
| Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | 8 | Aug 9, 2021 |
| Endocrine-cerebro-osteodysplasia syndrome | 1 | Sep 21, 2021 |
| Enhanced S-cone syndrome | 3 | Dec 4, 2021 |
| Epidermodysplasia verruciformis, susceptibility to, 2 | 5 | Feb 21, 2022 |
| Epidermolysis bullosa simplex 1C, localized | 5 | Oct 18, 2021 |
| Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | 6 | Sep 11, 2021 |
| Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive | 4 | Sep 21, 2021 |
| Epidermolysis bullosa simplex 5B, with muscular dystrophy | 39 | Dec 8, 2021 |
| Epidermolysis bullosa simplex 5C, with pyloric atresia | 39 | Dec 8, 2021 |
| Epidermolysis bullosa simplex with nail dystrophy | 39 | Dec 8, 2021 |
| Epidermolysis bullosa simplex, Ogna type | 39 | Dec 8, 2021 |
| Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | 1 | Oct 18, 2021 |
| Epidermolytic ichthyosis | 1 | Oct 18, 2021 |
| Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | 1 | Jan 25, 2022 |
| Epilepsy, childhood absence 2 | 1 | Sep 21, 2021 |
| Epilepsy, early-onset, with or without developmental delay | 1 | Jan 10, 2022 |
| Epilepsy, familial adult myoclonic, 4 | 6 | May 15, 2022 |
| Epilepsy, familial adult myoclonic, 5 | 3 | Sep 1, 2021 |
| Epilepsy, familial adult myoclonic, 6 | 6 | Feb 21, 2022 |
| Epilepsy, familial adult myoclonic, 7 | 5 | Dec 15, 2021 |
| Epilepsy, familial focal, with variable foci 1 | 3 | Dec 22, 2021 |
| Epilepsy, familial focal, with variable foci 3 | 5 | Aug 2, 2021 |
| Epilepsy, familial focal, with variable foci 4 | 8 | Jan 10, 2022 |
| Epilepsy, familial temporal lobe, 1 | 1 | Oct 18, 2021 |
| Epilepsy, idiopathic generalized, susceptibility to, 10 | 2 | Oct 18, 2023 |
| Epilepsy, idiopathic generalized, susceptibility to, 12 | 145 | Dec 1, 2023 |
| Epilepsy, progressive myoclonic, 11 | 5 | Jan 10, 2022 |
| Epilepsy, progressive myoclonic, 1B | 1 | Dec 8, 2021 |
| Epiphyseal dysplasia, multiple, 3 | 6 | Sep 11, 2021 |
| Epiphyseal dysplasia, multiple, 6 | 12 | Sep 11, 2021 |
| Episodic ataxia type 1 | 4 | Oct 18, 2021 |
| Episodic ataxia type 2 | 20 | Aug 10, 2021 |
| Episodic ataxia type 6 | 9 | Jan 10, 2022 |
| Episodic ataxia, type 9 | 6 | Jan 10, 2022 |
| Episodic kinesigenic dyskinesia 1 | 1 | Dec 8, 2021 |
| Episodic pain syndrome, familial, 2 | 12 | Jan 10, 2022 |
| Epithelial recurrent erosion dystrophy | 14 | Sep 1, 2021 |
| Erythrocytosis, familial, 7 | 1 | Aug 2, 2021 |
| Erythrokeratodermia variabilis et progressiva 1 | 1 | Sep 21, 2021 |
| Erythrokeratodermia variabilis et progressiva 4 | 1 | Oct 18, 2021 |
| Erythrokeratodermia variabilis et progressiva 6 | 3 | Feb 21, 2022 |
| Ethylmalonic encephalopathy | 5 | Aug 15, 2021 |
| Euthyroid goiter | 3 | Sep 11, 2021 |
| Even-plus syndrome | 2 | Sep 21, 2021 |
| Exercise-induced hyperinsulinism | 2 | Jan 10, 2022 |
| Exostoses, multiple, type 2 | 1 | Sep 21, 2021 |
| Exudative vitreoretinopathy 5 | 3 | Mar 2, 2022 |
| FG syndrome 1 | 6 | Nov 10, 2021 |
| FRAXE | 5 | Aug 4, 2021 |
| Fabry disease | 172 | Jul 15, 2024 |
| Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | 1 | Oct 18, 2021 |
| Facial dysmorphism-immunodeficiency-livedo-short stature syndrome | 15 | Dec 8, 2021 |
| Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome | 11 | Aug 9, 2021 |
| Facial palsy, congenital, with ptosis and velopharyngeal dysfunction | 5 | May 15, 2022 |
| Facial paresis, hereditary congenital, 3 | 1 | Sep 21, 2021 |
| Factor H deficiency | 136 | Dec 17, 2023 |
| Factor I deficiency | 5 | Aug 23, 2021 |
| Factor XIII, A subunit, deficiency of | 8 | Sep 21, 2021 |
| Factor XIII, b subunit, deficiency of | 3 | Sep 21, 2021 |
| Familial Mediterranean fever | 221 | Feb 9, 2023 |
| Familial Mediterranean fever, autosomal dominant | 199 | Jul 15, 2024 |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 1 | Dec 4, 2021 |
| Familial amyloid nephropathy with urticaria AND deafness | 3 | Nov 24, 2021 |
| Familial cancer of breast | 3 | Aug 10, 2021 |
| Familial cavitary optic disk anomaly | 1 | Nov 10, 2021 |
| Familial cold autoinflammatory syndrome 1 | 3 | Nov 24, 2021 |
| Familial cold autoinflammatory syndrome 2 | 3 | Nov 24, 2021 |
| Familial cold autoinflammatory syndrome 3 | 13 | Dec 8, 2021 |
| Familial cold autoinflammatory syndrome 4 | 2 | Nov 24, 2021 |
| Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | 345 | Feb 9, 2023 |
| Familial cylindromatosis | 1 | Sep 11, 2021 |
| Familial dysautonomia | 37 | Aug 30, 2021 |
| Familial episodic pain syndrome with predominantly lower limb involvement | 5 | Jan 10, 2022 |
| Familial episodic pain syndrome with predominantly upper body involvement | 10 | Feb 21, 2022 |
| Familial expansile osteolysis | 1 | Feb 21, 2022 |
| Familial gestational hyperthyroidism | 6 | Mar 2, 2022 |
| Familial hemophagocytic lymphohistiocytosis 2 | 1 | Dec 8, 2021 |
| Familial hemophagocytic lymphohistiocytosis 3 | 7 | May 15, 2022 |
| Familial hemophagocytic lymphohistiocytosis 5 | 7 | Jan 25, 2022 |
| Familial hyperaldosteronism type III | 5 | Oct 18, 2021 |
| Familial hyperthyroidism due to mutations in TSH receptor | 6 | Mar 2, 2022 |
| Familial hypobetalipoproteinemia 1 | 8 | Aug 9, 2021 |
| Familial hypocalciuric hypercalcemia 1 | 5 | Aug 10, 2021 |
| Familial hypocalciuric hypercalcemia 3 | 1 | Aug 9, 2021 |
| Familial hypokalemia-hypomagnesemia | 121 | Jan 10, 2022 |
| Familial infantile myasthenia | 8 | Aug 23, 2021 |
| Familial isolated congenital asplenia | 3 | Dec 15, 2021 |
| Familial isolated deficiency of vitamin E | 2 | May 15, 2022 |
| Familial juvenile hyperuricemic nephropathy type 1 | 2 | May 15, 2022 |
| Familial juvenile hyperuricemic nephropathy type 2 | 2 | Dec 15, 2021 |
| Familial pulmonary capillary hemangiomatosis | 7 | Sep 11, 2021 |
| Familial retinal arterial macroaneurysm | 1 | Oct 12, 2021 |
| Familial spontaneous pneumothorax | 2 | Sep 21, 2021 |
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness | 3 | Sep 11, 2021 |
| Familial temporal lobe epilepsy 8 | 2 | Sep 21, 2021 |
| Familial visceral amyloidosis, Ostertag type | 7 | Jun 25, 2022 |
| Fanconi anemia complementation group A | 49 | Aug 30, 2021 |
| Fanconi anemia complementation group B | 1 | Sep 21, 2021 |
| Fanconi anemia complementation group C | 7 | Aug 15, 2021 |
| Fanconi anemia complementation group D2 | 9 | Sep 21, 2021 |
| Fanconi anemia complementation group E | 3 | Sep 21, 2021 |
| Fanconi anemia complementation group F | 1 | Sep 21, 2021 |
| Fanconi anemia complementation group G | 13 | Aug 30, 2021 |
| Fanconi anemia complementation group I | 9 | Sep 21, 2021 |
| Fanconi anemia complementation group L | 1 | Sep 21, 2021 |
| Fanconi anemia complementation group O | 1 | Dec 15, 2021 |
| Fanconi anemia complementation group P | 3 | Jan 12, 2022 |
| Fanconi anemia complementation group Q | 5 | Sep 11, 2021 |
| Fanconi anemia complementation group T | 1 | May 15, 2022 |
| Fanconi anemia, complementation group W | 3 | Dec 15, 2021 |
| Fanconi renotubular syndrome 1 | 2 | Sep 21, 2021 |
| Fanconi renotubular syndrome 2 | 2 | Jan 12, 2022 |
| Fanconi renotubular syndrome 5 | 3 | Nov 17, 2021 |
| Fanconi-Bickel syndrome | 1 | Jan 12, 2022 |
| Farber lipogranulomatosis | 21 | Aug 9, 2021 |
| Fatal infantile hypertonic myofibrillar myopathy | 1 | Sep 11, 2021 |
| Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | 5 | Sep 1, 2021 |
| Fetal akinesia deformation sequence 1 | 2 | Nov 10, 2021 |
| Fetal akinesia deformation sequence 2 | 8 | Dec 15, 2021 |
| Fetal akinesia deformation sequence 3 | 3 | Sep 11, 2021 |
| Fetal akinesia deformation sequence 4 | 8 | Dec 4, 2021 |
| Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies | 68 | Jun 25, 2022 |
| Fetal akinesia-cerebral and retinal hemorrhage syndrome | 1 | Sep 11, 2021 |
| Fibrochondrogenesis 1 | 16 | Sep 1, 2021 |
| Fibrochondrogenesis 2 | 15 | Sep 1, 2021 |
| Fibromatosis, gingival, 1 | 206 | Dec 8, 2022 |
| Fibromuscular dysplasia, multifocal | 184 | Jul 28, 2022 |
| Fibrous dysplasia of jaw | 5 | Jan 10, 2022 |
| Filippi syndrome | 2 | Aug 23, 2021 |
| Finnish congenital nephrotic syndrome | 28 | Aug 30, 2021 |
| Finnish type amyloidosis | 3 | Sep 21, 2021 |
| Fish-eye disease | 1 | Oct 18, 2021 |
| Fleck corneal dystrophy | 13 | Dec 4, 2021 |
| Floating-Harbor syndrome | 3 | Jan 12, 2022 |
| Focal segmental glomerulosclerosis 1 | 40 | Jun 7, 2022 |
| Focal segmental glomerulosclerosis 2 | 2 | Feb 21, 2022 |
| Focal segmental glomerulosclerosis 6 | 3 | Nov 17, 2021 |
| Focal segmental glomerulosclerosis 7 | 4 | Dec 4, 2021 |
| Focal segmental glomerulosclerosis 8 | 25 | Jun 25, 2022 |
| Fontaine progeroid syndrome | 2 | Jan 10, 2022 |
| Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome | 1 | Jan 12, 2022 |
| Fowler syndrome | 3 | Sep 21, 2021 |
| Frank-Ter Haar syndrome | 6 | Jan 10, 2022 |
| Fraser syndrome 1 | 25 | Sep 21, 2021 |
| Fraser syndrome 2 | 5 | Sep 21, 2021 |
| Fraser syndrome 3 | 6 | Sep 21, 2021 |
| Frasier syndrome | 18 | May 15, 2022 |
| Freeman-Sheldon syndrome | 22 | Nov 17, 2021 |
| Friedreich ataxia 1 | 1 | Sep 21, 2021 |
| Frontonasal dysplasia with alopecia and genital anomaly | 8 | Aug 4, 2021 |
| Frontorhiny | 1 | Aug 4, 2021 |
| Frontotemporal dementia | 1 | Dec 8, 2021 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | 3 | Aug 10, 2021 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 4 | Aug 23, 2021 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | 3 | Jan 12, 2022 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 2 | Jan 25, 2022 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | 4 | May 15, 2022 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | 1 | Aug 23, 2021 |
| Fructose-biphosphatase deficiency | 8 | Sep 21, 2021 |
| Fuhrmann syndrome | 1 | May 15, 2022 |
| Fumarase deficiency | 2 | Jul 14, 2021 |
| GAPO syndrome | 17 | Jun 25, 2022 |
| GM1 gangliosidosis type 2 | 7 | Sep 21, 2021 |
| GM1 gangliosidosis type 3 | 7 | Sep 21, 2021 |
| GNE myopathy | 4 | Jul 31, 2021 |
| GNPTG-mucolipidosis | 41 | Dec 29, 2021 |
| GRACILE syndrome | 5 | Aug 30, 2021 |
| GRN-related frontotemporal lobar degeneration with Tdp43 inclusions | 1 | Sep 21, 2021 |
| GTP cyclohydrolase I deficiency | 1 | Sep 21, 2021 |
| Galactosemia 4 | 1 | Sep 21, 2021 |
| Galactosylceramide beta-galactosidase deficiency | 43 | Aug 30, 2021 |
| Galloway-Mowat syndrome 1 | 2 | May 15, 2022 |
| Galloway-Mowat syndrome 2, X-linked | 1 | Oct 18, 2021 |
| Galloway-Mowat syndrome 3 | 5 | Dec 4, 2021 |
| Galloway-Mowat syndrome 4 | 1 | Aug 30, 2021 |
| Galloway-Mowat syndrome 5 | 1 | Feb 21, 2022 |
| Galloway-Mowat syndrome 6 | 5 | May 15, 2022 |
| Galloway-Mowat syndrome 7 | 3 | Dec 4, 2021 |
| Galloway-Mowat syndrome 8 | 1 | Dec 4, 2021 |
| Gamma-aminobutyric acid transaminase deficiency | 9 | Aug 2, 2021 |
| Gastrointestinal defects and immunodeficiency syndrome 1 | 5 | Mar 2, 2022 |
| Gastrointestinal stromal tumor | 2 | Jan 10, 2022 |
| Gaucher disease perinatal lethal | 4 | Jul 7, 2021 |
| Gaucher disease type I | 13 | Aug 30, 2021 |
| Gaucher disease type II | 3 | Aug 15, 2021 |
| Gaze palsy, familial horizontal, with progressive scoliosis 1 | 6 | Dec 15, 2021 |
| Gaze palsy, familial horizontal, with progressive scoliosis, 2 | 6 | Sep 11, 2021 |
| Gelatinous droplike corneal dystrophy | 1 | Oct 18, 2023 |
| Geleophysic dysplasia 1 | 9 | Aug 4, 2021 |
| Generalized epilepsy with febrile seizures plus, type 2 | 2 | Aug 30, 2021 |
| Generalized epilepsy with febrile seizures plus, type 9 | 3 | Jan 25, 2022 |
| Generalized epilepsy-paroxysmal dyskinesia syndrome | 1 | Oct 18, 2021 |
| Generalized juvenile polyposis/juvenile polyposis coli | 2 | Aug 9, 2021 |
| Genitourinary and/or brain malformation syndrome | 1 | Dec 8, 2021 |
| Geroderma osteodysplastica | 40 | Oct 18, 2023 |
| Giant axonal neuropathy 1 | 1 | Sep 21, 2021 |
| Gillespie syndrome | 8 | Oct 18, 2021 |
| Gillessen-Kaesbach-Nishimura syndrome | 2 | Aug 4, 2021 |
| Glanzmann thrombasthenia 1 | 3 | Oct 18, 2021 |
| Glaucoma 1, open angle, G | 5 | May 15, 2022 |
| Glaucoma 3, primary congenital, E | 7 | Feb 21, 2022 |
| Glaucoma 3A | 8 | Sep 11, 2021 |
| Glaucoma, primary closed-angle | 11 | Sep 1, 2021 |
| Global developmental delay with or without impaired intellectual development | 10 | Sep 11, 2021 |
| Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | 2 | May 15, 2022 |
| Globozoospermia | 1 | Jan 12, 2022 |
| Glomerulopathy with fibronectin deposits 2 | 18 | Sep 21, 2021 |
| Glucocorticoid deficiency 1 | 2 | Sep 21, 2021 |
| Glucocorticoid deficiency 4 | 3 | Nov 24, 2021 |
| Glucocorticoid deficiency 5 | 5 | May 15, 2022 |
| Glucocorticoid deficiency with achalasia | 7 | Aug 2, 2021 |
| Glucocorticoid resistance | 1 | Dec 4, 2021 |
| Glucose-6-phosphate transport defect | 11 | Aug 23, 2021 |
| Glutamate formiminotransferase deficiency | 2 | Sep 21, 2021 |
| Glutaric aciduria, type 1 | 9 | Aug 15, 2021 |
| Glutathione synthetase deficiency with 5-oxoprolinuria | 1 | Sep 21, 2021 |
| Glutathione synthetase deficiency without 5-oxoprolinuria | 1 | Sep 21, 2021 |
| Glycogen storage disease IXc | 1 | Dec 4, 2021 |
| Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 3 | Aug 30, 2021 |
| Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | 3 | Oct 18, 2021 |
| Glycogen storage disease due to muscle and heart glycogen synthase deficiency | 1 | Sep 21, 2021 |
| Glycogen storage disease due to muscle beta-enolase deficiency | 2 | Sep 11, 2021 |
| Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | 1 | Dec 4, 2021 |
| Glycogen storage disease type III | 368 | Oct 18, 2023 |
| Glycogen storage disease, type II | 290 | Nov 24, 2021 |
| Glycogen storage disease, type IV | 14 | Sep 21, 2021 |
| Glycogen storage disease, type V | 28 | Aug 23, 2021 |
| Glycogen storage disease, type VI | 7 | Dec 15, 2021 |
| Glycogen storage disease, type VII | 10 | Dec 4, 2021 |
| Glycogen storage disorder due to hepatic glycogen synthase deficiency | 7 | Sep 21, 2021 |
| Glycosylphosphatidylinositol biosynthesis defect 16 | 2 | Dec 4, 2021 |
| Glycosylphosphatidylinositol biosynthesis defect 21 | 1 | Dec 4, 2021 |
| Gnathodiaphyseal dysplasia | 39 | Jun 25, 2022 |
| Goldberg-Shprintzen syndrome | 1 | Oct 18, 2021 |
| Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | 1 | Dec 8, 2021 |
| Gordon syndrome | 24 | Dec 4, 2021 |
| Gorlin syndrome | 9 | Jan 25, 2022 |
| Granulocytopenia with immunoglobulin abnormality | 3 | Sep 21, 2021 |
| Granulomatous disease, chronic, X-linked | 2 | Jul 31, 2021 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | 14 | Aug 30, 2021 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 | 2 | Nov 17, 2021 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 | 2 | Nov 17, 2021 |
| Gray platelet syndrome | 8 | Nov 17, 2021 |
| Greenberg dysplasia | 3 | Oct 18, 2021 |
| Greig cephalopolysyndactyly syndrome | 2 | Sep 21, 2021 |
| Griscelli syndrome type 1 | 8 | Nov 17, 2021 |
| Griscelli syndrome type 2 | 1 | Dec 15, 2021 |
| Griscelli syndrome type 3 | 3 | Nov 10, 2021 |
| Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome | 6 | Jan 10, 2022 |
| Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | 1 | Sep 21, 2021 |
| H syndrome | 7 | Jan 12, 2022 |
| HNSHA due to aldolase A deficiency | 1 | Aug 4, 2021 |
| Hajdu-Cheney syndrome | 3 | Nov 24, 2021 |
| Hamartoma of hypothalamus | 4 | Jan 12, 2022 |
| Harel-Yoon syndrome | 7 | Oct 18, 2023 |
| Hawkinsinuria | 1 | Sep 21, 2021 |
| Hb SS disease | 2 | Jun 8, 2021 |
| Hearing loss, X-linked 1 | 1 | Dec 8, 2021 |
| Hearing loss, X-linked 6 | 46 | Jul 28, 2022 |
| Hearing loss, autosomal dominant 37 | 16 | Sep 1, 2021 |
| Hearing loss, autosomal dominant 71 | 12 | Sep 11, 2021 |
| Hearing loss, autosomal dominant 72 | 7 | Jan 12, 2022 |
| Hearing loss, autosomal dominant 73 | 11 | Dec 15, 2021 |
| Hearing loss, autosomal dominant 74 | 5 | Dec 4, 2021 |
| Hearing loss, autosomal dominant 75 | 2 | Feb 21, 2022 |
| Hearing loss, autosomal dominant 76 | 2 | Dec 8, 2021 |
| Hearing loss, autosomal dominant 80 | 2 | Sep 21, 2021 |
| Hearing loss, autosomal recessive 106 | 4 | Aug 2, 2021 |
| Hearing loss, autosomal recessive 107 | 4 | May 15, 2022 |
| Hearing loss, autosomal recessive 108 | 4 | Dec 15, 2021 |
| Hearing loss, autosomal recessive 109 | 4 | Sep 11, 2021 |
| Hearing loss, autosomal recessive 110 | 2 | Sep 1, 2021 |
| Hearing loss, autosomal recessive 112 | 12 | Aug 9, 2021 |
| Hearing loss, autosomal recessive 115 | 6 | Jan 12, 2022 |
| Hearing loss, autosomal recessive 57 | 8 | Aug 1, 2022 |
| Hearing loss, autosomal recessive 94 | 2 | Nov 17, 2021 |
| Hearing loss, autosomal recessive 99 | 2 | Feb 21, 2022 |
| Heart and brain malformation syndrome | 1 | Jan 12, 2022 |
| Heart defect - tongue hamartoma - polysyndactyly syndrome | 2 | May 15, 2022 |
| Hecht syndrome | 4 | Nov 17, 2021 |
| Heimler syndrome 1 | 13 | Dec 4, 2021 |
| Heimler syndrome 2 | 11 | Aug 20, 2021 |
| Helicoid peripapillary chorioretinal degeneration | 1 | Feb 21, 2022 |
| Hemochromatosis type 1 | 17 | Feb 9, 2023 |
| Hemochromatosis type 2A | 1 | Aug 15, 2021 |
| Hemochromatosis type 3 | 2 | Aug 23, 2021 |
| Hemochromatosis type 4 | 3 | Jan 12, 2022 |
| Hemolytic anemia due to glutathione reductase deficiency | 1 | Sep 21, 2021 |
| Hemolytic anemia due to hexokinase deficiency | 6 | Sep 21, 2021 |
| Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency | 1 | Dec 4, 2021 |
| Hemolytic uremic syndrome, atypical, susceptibility to, 1 | 130 | Dec 17, 2023 |
| Hennekam lymphangiectasia-lymphedema syndrome 1 | 7 | Aug 10, 2021 |
| Hennekam lymphangiectasia-lymphedema syndrome 2 | 15 | Sep 21, 2021 |
| Hennekam lymphangiectasia-lymphedema syndrome 3 | 3 | Aug 4, 2021 |
| Hepatic veno-occlusive disease-immunodeficiency syndrome | 7 | Jan 12, 2022 |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | 19 | Aug 30, 2021 |
| Hereditary acrodermatitis enteropathica | 12 | Aug 23, 2021 |
| Hereditary angioedema type 1 | 2 | Jan 10, 2022 |
| Hereditary angioedema type 3 | 5 | Sep 21, 2021 |
| Hereditary antithrombin deficiency | 3 | Jan 10, 2022 |
| Hereditary arterial and articular multiple calcification syndrome | 2 | Dec 4, 2021 |
| Hereditary cancer-predisposing syndrome | 632 | Oct 6, 2022 |
| Hereditary cryohydrocytosis with reduced stomatin | 147 | Dec 1, 2023 |
| Hereditary diffuse gastric adenocarcinoma | 3 | Aug 10, 2021 |
| Hereditary diffuse leukoencephalopathy with spheroids | 6 | Sep 11, 2021 |
| Hereditary factor IX deficiency disease | 3 | Sep 21, 2021 |
| Hereditary factor VIII deficiency disease | 3 | Sep 21, 2021 |
| Hereditary factor X deficiency disease | 3 | Sep 21, 2021 |
| Hereditary factor XI deficiency disease | 9 | Aug 30, 2021 |
| Hereditary fructosuria | 11 | Aug 30, 2021 |
| Hereditary hyperferritinemia with congenital cataracts | 1 | Sep 21, 2021 |
| Hereditary insensitivity to pain with anhidrosis | 163 | Oct 18, 2023 |
| Hereditary leiomyomatosis and renal cell cancer | 2 | Jul 14, 2021 |
| Hereditary lymphedema type I | 9 | Sep 21, 2021 |
| Hereditary motor and sensory neuropathy, Okinawa type | 1 | Feb 21, 2022 |
| Hereditary myopathy with lactic acidosis due to ISCU deficiency | 4 | Oct 18, 2021 |
| Hereditary pancreatitis | 1 | Dec 8, 2021 |
| Hereditary sensory and autonomic neuropathy type 6 | 7 | Sep 11, 2021 |
| Hereditary sensory and autonomic neuropathy type 7 | 5 | Jan 10, 2022 |
| Hereditary sensory and autonomic neuropathy with spastic paraplegia | 15 | Aug 10, 2021 |
| Hereditary sensory neuropathy-deafness-dementia syndrome | 6 | Sep 11, 2021 |
| Hereditary spastic paraplegia 10 | 1 | Oct 18, 2021 |
| Hereditary spastic paraplegia 11 | 260 | Dec 8, 2022 |
| Hereditary spastic paraplegia 13 | 1 | Sep 21, 2021 |
| Hereditary spastic paraplegia 15 | 40 | May 15, 2022 |
| Hereditary spastic paraplegia 17 | 4 | Aug 9, 2021 |
| Hereditary spastic paraplegia 2 | 2 | Dec 8, 2021 |
| Hereditary spastic paraplegia 23 | 2 | Sep 11, 2021 |
| Hereditary spastic paraplegia 28 | 6 | Sep 11, 2021 |
| Hereditary spastic paraplegia 30 | 1 | Oct 18, 2021 |
| Hereditary spastic paraplegia 31 | 4 | Dec 15, 2021 |
| Hereditary spastic paraplegia 33 | 16 | May 15, 2022 |
| Hereditary spastic paraplegia 35 | 3 | Sep 21, 2021 |
| Hereditary spastic paraplegia 39 | 13 | Dec 8, 2021 |
| Hereditary spastic paraplegia 3A | 24 | Jun 25, 2022 |
| Hereditary spastic paraplegia 42 | 1 | Jan 12, 2022 |
| Hereditary spastic paraplegia 43 | 1 | Aug 10, 2021 |
| Hereditary spastic paraplegia 46 | 1 | Sep 21, 2021 |
| Hereditary spastic paraplegia 47 | 78 | Oct 18, 2023 |
| Hereditary spastic paraplegia 48 | 5 | Aug 9, 2021 |
| Hereditary spastic paraplegia 49 | 11 | Jul 20, 2021 |
| Hereditary spastic paraplegia 50 | 4 | Aug 9, 2021 |
| Hereditary spastic paraplegia 51 | 22 | Jun 25, 2022 |
| Hereditary spastic paraplegia 53 | 3 | May 15, 2022 |
| Hereditary spastic paraplegia 54 | 1 | Sep 11, 2021 |
| Hereditary spastic paraplegia 56 | 1 | Sep 11, 2021 |
| Hereditary spastic paraplegia 57 | 1 | Feb 21, 2022 |
| Hereditary spastic paraplegia 5A | 1 | Sep 11, 2021 |
| Hereditary spastic paraplegia 6 | 1 | Nov 24, 2021 |
| Hereditary spastic paraplegia 62 | 1 | Sep 11, 2021 |
| Hereditary spastic paraplegia 63 | 42 | Oct 18, 2023 |
| Hereditary spastic paraplegia 64 | 1 | Sep 11, 2021 |
| Hereditary spastic paraplegia 7 | 9 | Jan 12, 2022 |
| Hereditary spastic paraplegia 73 | 1 | Sep 11, 2021 |
| Hereditary spastic paraplegia 74 | 2 | Sep 21, 2021 |
| Hereditary spastic paraplegia 75 | 2 | Nov 10, 2021 |
| Hereditary spastic paraplegia 77 | 1 | Sep 21, 2021 |
| Hereditary spastic paraplegia 9A | 7 | Aug 4, 2021 |
| Hereditary spherocytosis type 1 | 41 | Jun 7, 2022 |
| Hereditary spherocytosis type 2 | 16 | Jan 12, 2022 |
| Hereditary spherocytosis type 3 | 22 | Jan 12, 2022 |
| Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | 2 | Dec 15, 2021 |
| Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency | 3 | Sep 21, 2021 |
| Hereditary xanthinuria type 1 | 37 | May 15, 2022 |
| Hermansky-Pudlak syndrome 1 | 16 | Sep 21, 2021 |
| Hermansky-Pudlak syndrome 2 | 2 | Aug 9, 2021 |
| Hermansky-Pudlak syndrome 3 | 15 | Aug 15, 2021 |
| Hermansky-Pudlak syndrome 4 | 7 | Sep 21, 2021 |
| Hermansky-Pudlak syndrome 5 | 2 | Sep 21, 2021 |
| Hermansky-Pudlak syndrome 8 | 1 | Aug 9, 2021 |
| Heterotaxy, visceral, 4, autosomal | 3 | Aug 4, 2021 |
| Heterotaxy, visceral, 5, autosomal | 2 | Nov 24, 2021 |
| Heterotaxy, visceral, 8, autosomal | 23 | Dec 4, 2021 |
| High myopia-sensorineural deafness syndrome | 1 | Jan 12, 2022 |
| Hip dysplasia, Beukes type | 2 | May 15, 2022 |
| Histiocytic medullary reticulosis | 17 | Dec 15, 2021 |
| Holocarboxylase synthetase deficiency | 11 | Aug 15, 2021 |
| Holoprosencephaly 11 | 6 | Aug 23, 2021 |
| Holoprosencephaly 12 with or without pancreatic agenesis | 7 | Sep 1, 2021 |
| Holoprosencephaly 13, X-linked | 2 | Jan 12, 2022 |
| Holoprosencephaly 2 | 1 | Jan 10, 2022 |
| Holoprosencephaly 3 | 1 | Jan 10, 2022 |
| Holoprosencephaly 5 | 1 | Aug 30, 2021 |
| Holoprosencephaly 7 | 3 | Dec 8, 2021 |
| Holoprosencephaly 9 | 9 | Sep 21, 2021 |
| Holt-Oram syndrome | 1 | Jan 25, 2022 |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 9 | Aug 30, 2021 |
| Houge-Janssens syndrome 2 | 1 | Aug 30, 2021 |
| Houge-Janssens syndrome 3 | 1 | Dec 8, 2021 |
| Humerofemoral hypoplasia with radiotibial ray deficiency | 2 | Dec 15, 2021 |
| Huppke-Brendel syndrome | 1 | Jan 12, 2022 |
| Hurler syndrome | 14 | Aug 2, 2021 |
| Hyaline fibromatosis syndrome | 4 | Aug 9, 2021 |
| Hydrocephalus, congenital, 3, with brain anomalies | 8 | Aug 2, 2021 |
| Hydrocephalus, nonsyndromic, autosomal recessive 1 | 9 | Aug 10, 2021 |
| Hydrocephalus, nonsyndromic, autosomal recessive 2 | 3 | Nov 10, 2021 |
| Hydrolethalus syndrome 1 | 1 | Jul 20, 2021 |
| Hydrolethalus syndrome 2 | 12 | Oct 18, 2021 |
| Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome | 6 | Oct 18, 2021 |
| Hydroxykynureninuria | 1 | Oct 18, 2021 |
| Hyper-IgE recurrent infection syndrome 1, autosomal dominant | 2 | Jan 12, 2022 |
| Hyper-IgE recurrent infection syndrome 3, autosomal recessive | 1 | May 15, 2022 |
| Hyper-IgE recurrent infection syndrome 4, autosomal recessive | 1 | May 19, 2021 |
| Hyper-IgM syndrome type 2 | 4 | Aug 4, 2021 |
| Hyper-IgM syndrome type 3 | 2 | Aug 10, 2021 |
| Hyperammonemia, type III | 7 | Aug 20, 2021 |
| Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | 3 | Aug 10, 2021 |
| Hypercalcemia, infantile, 1 | 2 | Sep 11, 2021 |
| Hypercalcemia, infantile, 2 | 2 | Jan 12, 2022 |
| Hypercholanemia, familial 1 | 9 | Feb 21, 2022 |
| Hypercholesterolemia, autosomal dominant, 3 | 7 | Oct 18, 2023 |
| Hypercholesterolemia, autosomal dominant, type B | 8 | Aug 9, 2021 |
| Hypercholesterolemia, familial, 1 | 37 | Aug 15, 2021 |
| Hypercholesterolemia, familial, 4 | 90 | Dec 1, 2023 |
| Hyperekplexia 2 | 2 | Sep 21, 2021 |
| Hyperekplexia 3 | 8 | Jan 12, 2022 |
| Hyperglycinuria | 9 | Jan 12, 2022 |
| Hyperinsulinemic hypoglycemia, familial, 1 | 1 | Aug 30, 2021 |
| Hyperinsulinemic hypoglycemia, familial, 2 | 3 | Aug 30, 2021 |
| Hyperlipoproteinemia, type I | 8 | Aug 30, 2021 |
| Hypermanganesemia with dystonia 2 | 4 | Jan 12, 2022 |
| Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | 2 | Aug 4, 2021 |
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 4 | Jul 20, 2021 |
| Hyperostosis cranialis interna | 4 | Jan 12, 2022 |
| Hyperphosphatasemia with bone disease | 2 | Feb 21, 2022 |
| Hyperphosphatasia with intellectual disability syndrome 2 | 3 | Dec 4, 2021 |
| Hyperphosphatasia with intellectual disability syndrome 4 | 2 | Dec 4, 2021 |
| Hyperproinsulinemia | 1 | Aug 2, 2021 |
| Hyperprolinemia type 2 | 14 | Aug 4, 2021 |
| Hypertrichotic osteochondrodysplasia Cantu type | 13 | Aug 4, 2021 |
| Hypertrophic cardiomyopathy 1 | 1 | Nov 17, 2021 |
| Hypertrophic cardiomyopathy 10 | 1 | Nov 17, 2021 |
| Hypertrophic cardiomyopathy 15 | 4 | May 15, 2022 |
| Hypertrophic cardiomyopathy 17 | 2 | Oct 18, 2021 |
| Hypertrophic cardiomyopathy 2 | 212 | Dec 17, 2023 |
| Hypertrophic cardiomyopathy 25 | 1 | Jan 25, 2022 |
| Hypertrophic cardiomyopathy 3 | 2 | Feb 21, 2022 |
| Hypertrophic cardiomyopathy 4 | 5 | Nov 10, 2021 |
| Hypertrophic cardiomyopathy 6 | 1 | Dec 8, 2021 |
| Hypertrophic cardiomyopathy 7 | 1 | Feb 21, 2022 |
| Hypertrophic cardiomyopathy 8 | 2 | Nov 17, 2021 |
| Hypertrophic osteoarthropathy, primary, autosomal dominant | 2 | Jan 12, 2022 |
| Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 | 2 | Sep 21, 2021 |
| Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 | 2 | Jan 12, 2022 |
| Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome | 7 | Dec 15, 2021 |
| Hypoalphalipoproteinemia, primary, 2 | 7 | Jun 25, 2022 |
| Hypoalphalipoproteinemia, primary, 2, intermediate | 7 | Jun 25, 2022 |
| Hypogonadotropic hypogonadism 1 with or without anosmia | 2 | Oct 18, 2021 |
| Hypogonadotropic hypogonadism 13 with or without anosmia | 2 | Oct 18, 2021 |
| Hypogonadotropic hypogonadism 14 with or without anosmia | 9 | May 15, 2022 |
| Hypogonadotropic hypogonadism 15 with or without anosmia | 1 | May 12, 2021 |
| Hypogonadotropic hypogonadism 18 with or without anosmia | 4 | Oct 18, 2021 |
| Hypogonadotropic hypogonadism 19 with or without anosmia | 1 | Sep 11, 2021 |
| Hypogonadotropic hypogonadism 21 with or without anosmia | 1 | Sep 21, 2021 |
| Hypogonadotropic hypogonadism 24 without anosmia | 1 | Sep 21, 2021 |
| Hypogonadotropic hypogonadism 25 with anosmia | 6 | Nov 17, 2021 |
| Hypogonadotropic hypogonadism 3 with or without anosmia | 2 | Dec 8, 2021 |
| Hypogonadotropic hypogonadism 5 with or without anosmia | 5 | Aug 23, 2021 |
| Hypogonadotropic hypogonadism 8 with or without anosmia | 2 | Aug 2, 2021 |
| Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | 3 | Sep 1, 2021 |
| Hypohidrotic X-linked ectodermal dysplasia | 4 | Sep 11, 2021 |
| Hypokalemic periodic paralysis, type 1 | 369 | Dec 17, 2023 |
| Hypomagnesemia, seizures, and intellectual disability 1 | 2 | Sep 1, 2021 |
| Hypomagnesemia, seizures, and intellectual disability 2 | 13 | Jun 25, 2022 |
| Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism | 3 | Sep 11, 2021 |
| Hypomyelinating leukodystrophy 10 | 2 | Dec 15, 2021 |
| Hypomyelinating leukodystrophy 12 | 5 | May 15, 2022 |
| Hypomyelinating leukodystrophy 4 | 1 | Sep 21, 2021 |
| Hypomyelinating leukodystrophy 6 | 1 | May 15, 2022 |
| Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | 2 | Dec 8, 2021 |
| Hypomyelinating leukodystrophy 9 | 5 | Dec 15, 2021 |
| Hypomyelination and Congenital Cataract | 1 | Sep 21, 2021 |
| Hypomyelination with brain stem and spinal cord involvement and leg spasticity | 2 | Sep 11, 2021 |
| Hypoparathyroidism, deafness, renal disease syndrome | 1 | Sep 21, 2021 |
| Hypoparathyroidism, familial isolated 1 | 2 | Dec 15, 2021 |
| Hypophosphatemic nephrolithiasis/osteoporosis 1 | 2 | Jan 12, 2022 |
| Hypophosphatemic rickets, autosomal recessive, 1 | 3 | Sep 11, 2021 |
| Hypophosphatemic rickets, autosomal recessive, 2 | 2 | Sep 11, 2021 |
| Hypopigmentation, organomegaly, and delayed myelination and development | 11 | Aug 2, 2021 |
| Hypopigmentation-punctate palmoplantar keratoderma syndrome | 2 | Sep 11, 2021 |
| Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome | 1 | Dec 15, 2021 |
| Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | 1 | Dec 4, 2021 |
| Hypothalamic hypothyroidism | 3 | Feb 21, 2022 |
| Hypothyroidism due to TSH receptor mutations | 6 | Mar 2, 2022 |
| Hypothyroidism, congenital, nongoitrous, 2 | 2 | Dec 4, 2021 |
| Hypothyroidism, congenital, nongoitrous, 8 | 4 | Jan 25, 2022 |
| Hypothyroidism, congenital, nongoitrous, 9 | 2 | Oct 18, 2021 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 5 | Nov 17, 2021 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 6 | May 15, 2022 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 1 | Jan 25, 2022 |
| Hypouricemia, renal, 2 | 8 | Jan 12, 2022 |
| IL21-related infantile inflammatory bowel disease | 1 | Oct 18, 2021 |
| IMAGe syndrome | 1 | Aug 23, 2021 |
| Ichthyosis bullosa of Siemens | 1 | Oct 18, 2021 |
| Ichthyosis vulgaris | 99 | Oct 18, 2023 |
| Ichthyosis, congenital, autosomal recessive 14 | 2 | Jan 25, 2022 |
| Ichthyosis, hystrix-like, with hearing loss | 1 | Aug 15, 2021 |
| Imerslund-Grasbeck syndrome type 1 | 28 | Sep 11, 2021 |
| Immunodeficiency 104 | 6 | Dec 15, 2021 |
| Immunodeficiency 11b with atopic dermatitis | 7 | Aug 10, 2021 |
| Immunodeficiency 14 | 2 | Dec 4, 2021 |
| Immunodeficiency 14b, autosomal recessive | 2 | Dec 4, 2021 |
| Immunodeficiency 15a | 1 | Oct 12, 2021 |
| Immunodeficiency 25 | 1 | Aug 10, 2021 |
| Immunodeficiency 27A | 1 | Sep 21, 2021 |
| Immunodeficiency 28 | 2 | Sep 21, 2021 |
| Immunodeficiency 31B | 1 | Jan 12, 2022 |
| Immunodeficiency 32B | 1 | Oct 18, 2021 |
| Immunodeficiency 35 | 5 | May 15, 2022 |
| Immunodeficiency 36 | 3 | Dec 4, 2021 |
| Immunodeficiency 39 | 10 | Aug 2, 2021 |
| Immunodeficiency 45 | 3 | Sep 21, 2021 |
| Immunodeficiency 47 | 1 | Aug 9, 2021 |
| Immunodeficiency 51 | 2 | Oct 18, 2021 |
| Immunodeficiency 57 | 1 | Dec 15, 2021 |
| Immunodeficiency 60 | 2 | Aug 9, 2021 |
| Immunodeficiency 63 with lymphoproliferation and autoimmunity | 4 | Oct 18, 2021 |
| Immunodeficiency 64 | 1 | Dec 15, 2021 |
| Immunodeficiency 69 | 1 | Sep 21, 2021 |
| Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia | 4 | Dec 15, 2021 |
| Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia | 4 | Dec 15, 2021 |
| Immunodeficiency 79 | 7 | Aug 10, 2021 |
| Immunodeficiency 88 | 1 | Jan 25, 2022 |
| Immunodeficiency due to CD25 deficiency | 2 | Oct 18, 2021 |
| Immunodeficiency, common variable, 1 | 3 | Sep 21, 2021 |
| Immunodeficiency, common variable, 10 | 3 | Nov 24, 2021 |
| Immunodeficiency, common variable, 12 | 3 | Nov 24, 2021 |
| Immunodeficiency, common variable, 14 | 2 | Oct 18, 2021 |
| Immunodeficiency, common variable, 2 | 3 | Feb 21, 2022 |
| Immunodeficiency, common variable, 3 | 2 | Aug 10, 2021 |
| Immunodeficiency, common variable, 7 | 76 | Dec 17, 2023 |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | 5 | Sep 11, 2021 |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 3 | 2 | Aug 10, 2021 |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 4 | 2 | Sep 21, 2021 |
| Immunoglobulin-mediated membranoproliferative glomerulonephritis | 2 | Sep 11, 2021 |
| Inclusion body myopathy and brain white matter abnormalities | 26 | Jun 25, 2022 |
| Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | 4 | May 15, 2022 |
| Indifference to pain, congenital, autosomal dominant | 4 | May 15, 2022 |
| Infantile GM1 gangliosidosis | 9 | Sep 21, 2021 |
| Infantile bilateral striatal necrosis | 3 | Dec 4, 2021 |
| Infantile cerebellar-retinal degeneration | 6 | Aug 4, 2021 |
| Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | 6 | Jul 20, 2021 |
| Infantile convulsions and choreoathetosis | 1 | Dec 8, 2021 |
| Infantile hypophosphatasia | 22 | Aug 11, 2021 |
| Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | 2 | Jan 25, 2022 |
| Infantile liver failure syndrome 2 | 14 | Nov 17, 2021 |
| Infantile liver failure syndrome 3 | 3 | Dec 15, 2021 |
| Infantile nephronophthisis | 2 | Oct 18, 2021 |
| Infantile-onset X-linked spinal muscular atrophy | 4 | May 15, 2022 |
| Infantile-onset ascending hereditary spastic paralysis | 10 | Aug 4, 2021 |
| Infantile-onset generalized dyskinesia with orofacial involvement | 2 | Dec 4, 2021 |
| Inflammatory bowel disease, immunodeficiency, and encephalopathy | 2 | Feb 21, 2022 |
| Inflammatory skin and bowel disease, neonatal, 1 | 7 | Aug 4, 2021 |
| Inflammatory skin and bowel disease, neonatal, 2 | 6 | Sep 11, 2021 |
| Intellectual developmental disorder 59 | 5 | Aug 10, 2021 |
| Intellectual developmental disorder 60 with seizures | 8 | Jun 25, 2022 |
| Intellectual developmental disorder 61 | 2 | Nov 10, 2021 |
| Intellectual developmental disorder 62 | 1 | Sep 11, 2021 |
| Intellectual developmental disorder and retinitis pigmentosa; IDDRP | 8 | Dec 15, 2021 |
| Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | 4 | Dec 15, 2021 |
| Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures | 2 | Dec 4, 2021 |
| Intellectual developmental disorder with cardiac defects and dysmorphic facies | 2 | Oct 18, 2021 |
| Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 1 | Sep 21, 2021 |
| Intellectual developmental disorder with dysmorphic facies and ptosis | 1 | Aug 9, 2021 |
| Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | 2 | Dec 4, 2021 |
| Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies | 17 | Oct 18, 2023 |
| Intellectual developmental disorder with hypertelorism and distinctive facies | 1 | Aug 10, 2021 |
| Intellectual developmental disorder with hypotonia and behavioral abnormalities | 1 | Aug 23, 2021 |
| Intellectual developmental disorder with impaired language and dysmorphic facies | 1 | Sep 11, 2021 |
| Intellectual developmental disorder with macrocephaly, seizures, and speech delay | 2 | Dec 4, 2021 |
| Intellectual developmental disorder with neuropsychiatric features | 5 | Oct 18, 2023 |
| Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | 1 | Dec 15, 2021 |
| Intellectual developmental disorder with poor growth and with or without seizures or ataxia | 13 | Aug 2, 2021 |
| Intellectual developmental disorder with severe speech and ambulation defects | 1 | Aug 4, 2021 |
| Intellectual developmental disorder, X-linked 108 | 3 | Jan 12, 2022 |
| Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type | 4 | Nov 24, 2021 |
| Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | 13 | Feb 21, 2022 |
| Intellectual developmental disorder, autosomal recessive 67 | 2 | Sep 11, 2021 |
| Intellectual developmental disorder, autosomal recessive 68 | 1 | Feb 21, 2022 |
| Intellectual developmental disorder, autosomal recessive 69 | 1 | May 15, 2022 |
| Intellectual developmental disorder, autosomal recessive 71 | 5 | Aug 4, 2021 |
| Intellectual developmental disorder, autosomal recessive 74 | 2 | Aug 2, 2021 |
| Intellectual disability, FRA12A type | 6 | Sep 11, 2021 |
| Intellectual disability, X-linked 100 | 5 | Oct 18, 2021 |
| Intellectual disability, X-linked 101 | 1 | Nov 10, 2021 |
| Intellectual disability, X-linked 104 | 2 | Sep 21, 2021 |
| Intellectual disability, X-linked 107 | 2 | Sep 11, 2021 |
| Intellectual disability, X-linked 19 | 1 | Dec 15, 2021 |
| Intellectual disability, X-linked 21 | 1 | Oct 18, 2021 |
| Intellectual disability, X-linked 30 | 1 | Dec 4, 2021 |
| Intellectual disability, X-linked 41 | 1 | Sep 21, 2021 |
| Intellectual disability, X-linked 50 | 1 | Jan 25, 2022 |
| Intellectual disability, X-linked 58 | 1 | Mar 2, 2022 |
| Intellectual disability, X-linked 63 | 1 | Aug 4, 2021 |
| Intellectual disability, X-linked 93 | 4 | Aug 9, 2021 |
| Intellectual disability, X-linked 99 | 1 | May 15, 2022 |
| Intellectual disability, X-linked 99, syndromic, female-restricted | 1 | May 15, 2022 |
| Intellectual disability, X-linked syndromic, Turner type | 3 | Sep 21, 2021 |
| Intellectual disability, X-linked, syndromic, 35 | 1 | Dec 15, 2021 |
| Intellectual disability, X-linked, syndromic, Bain type | 1 | Sep 21, 2021 |
| Intellectual disability, anterior maxillary protrusion, and strabismus | 1 | Jan 12, 2022 |
| Intellectual disability, autosomal dominant 13 | 10 | Sep 11, 2021 |
| Intellectual disability, autosomal dominant 14 | 45 | Jun 25, 2022 |
| Intellectual disability, autosomal dominant 16 | 604 | Jan 12, 2022 |
| Intellectual disability, autosomal dominant 24 | 8 | Aug 2, 2021 |
| Intellectual disability, autosomal dominant 29 | 1 | Jan 10, 2022 |
| Intellectual disability, autosomal dominant 3 | 3 | Aug 10, 2021 |
| Intellectual disability, autosomal dominant 30 | 4 | Aug 2, 2021 |
| Intellectual disability, autosomal dominant 38 | 2 | Sep 11, 2021 |
| Intellectual disability, autosomal dominant 39 | 4 | Aug 2, 2021 |
| Intellectual disability, autosomal dominant 41 | 1 | Jan 25, 2022 |
| Intellectual disability, autosomal dominant 43 | 2 | Sep 21, 2021 |
| Intellectual disability, autosomal dominant 46 | 2 | Oct 18, 2021 |
| Intellectual disability, autosomal dominant 47 | 1 | Jan 12, 2022 |
| Intellectual disability, autosomal dominant 48 | 2 | Dec 15, 2021 |
| Intellectual disability, autosomal dominant 5 | 2 | Jan 25, 2022 |
| Intellectual disability, autosomal dominant 51 | 1 | Jan 25, 2022 |
| Intellectual disability, autosomal dominant 52 | 26 | Oct 18, 2023 |
| Intellectual disability, autosomal dominant 53 | 5 | Aug 10, 2021 |
| Intellectual disability, autosomal dominant 54 | 10 | Aug 10, 2021 |
| Intellectual disability, autosomal dominant 55, with seizures | 1 | Dec 4, 2021 |
| Intellectual disability, autosomal dominant 56 | 2 | Sep 1, 2021 |
| Intellectual disability, autosomal dominant 57 | 1 | Feb 21, 2022 |
| Intellectual disability, autosomal dominant 58 | 2 | Jan 10, 2022 |
| Intellectual disability, autosomal dominant 6 | 4 | Sep 21, 2021 |
| Intellectual disability, autosomal dominant 8 | 4 | Sep 21, 2021 |
| Intellectual disability, autosomal dominant 9 | 1 | Oct 18, 2021 |
| Intellectual disability, autosomal recessive 1 | 2 | Dec 8, 2021 |
| Intellectual disability, autosomal recessive 12 | 3 | Oct 18, 2023 |
| Intellectual disability, autosomal recessive 13 | 7 | Feb 21, 2022 |
| Intellectual disability, autosomal recessive 2 | 3 | Sep 11, 2021 |
| Intellectual disability, autosomal recessive 3 | 2 | Aug 10, 2021 |
| Intellectual disability, autosomal recessive 42 | 1 | Dec 4, 2021 |
| Intellectual disability, autosomal recessive 43 | 1 | Oct 18, 2021 |
| Intellectual disability, autosomal recessive 46 | 5 | Nov 17, 2021 |
| Intellectual disability, autosomal recessive 47 | 7 | Sep 21, 2021 |
| Intellectual disability, autosomal recessive 53 | 6 | Dec 4, 2021 |
| Intellectual disability, autosomal recessive 54 | 7 | Feb 21, 2022 |
| Intellectual disability, autosomal recessive 56 | 1 | May 15, 2022 |
| Intellectual disability, autosomal recessive 60 | 1 | Oct 18, 2023 |
| Intellectual disability, autosomal recessive 61 | 2 | Dec 15, 2021 |
| Intellectual disability, autosomal recessive 63 | 5 | Aug 10, 2021 |
| Intellectual disability, autosomal recessive 64 | 4 | Oct 18, 2021 |
| Intellectual disability, autosomal recessive 65 | 5 | Oct 18, 2021 |
| Intellectual disability, short stature, facial anomalies, and joint dislocations | 1 | Sep 21, 2021 |
| Intellectual disability-epilepsy-extrapyramidal syndrome | 8 | Aug 2, 2021 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 1 | Jan 10, 2022 |
| Intellectual disability-hypotonia-spasticity-sleep disorder syndrome | 13 | Aug 9, 2021 |
| Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 6 | Aug 11, 2021 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 71 | Oct 18, 2023 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 1 | Sep 21, 2021 |
| Intellectual disability-strabismus syndrome | 1 | Aug 2, 2021 |
| Interstitial lung disease 2 | 7 | Jan 10, 2022 |
| Interstitial lung disease due to ABCA3 deficiency | 6 | Aug 2, 2021 |
| Intestinal hypomagnesemia 1 | 7 | Feb 21, 2022 |
| Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency | 6 | Sep 21, 2021 |
| Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency | 15 | Dec 8, 2021 |
| Iodotyrosyl coupling defect | 17 | Feb 21, 2022 |
| Iron-refractory iron deficiency anemia | 9 | Feb 21, 2022 |
| Isolated anhidrosis with normal sweat glands | 7 | Oct 18, 2021 |
| Isolated cryptophthalmia | 5 | Sep 21, 2021 |
| Isolated focal non-epidermolytic palmoplantar keratoderma | 9 | Feb 21, 2022 |
| Isolated growth hormone deficiency, type 5 | 2 | Dec 15, 2021 |
| Isolated lutropin deficiency | 7 | Oct 18, 2021 |
| Isolated microphthalmia 2 | 4 | Jul 20, 2021 |
| Isolated microphthalmia 5 | 1 | Nov 10, 2021 |
| Isolated microphthalmia 6 | 2 | Dec 8, 2021 |
| Isolated neonatal sclerosing cholangitis | 4 | Sep 11, 2021 |
| Isolated thyroid-stimulating hormone deficiency | 1 | Mar 2, 2022 |
| Isovaleryl-CoA dehydrogenase deficiency | 10 | Aug 15, 2021 |
| Jawad syndrome | 3 | Dec 15, 2021 |
| Jervell and Lange-Nielsen syndrome 2 | 1 | Oct 18, 2021 |
| Johanson-Blizzard syndrome | 4 | May 15, 2022 |
| Joint laxity, short stature, and myopia | 1 | Sep 21, 2021 |
| Joubert syndrome 1 | 6 | Oct 18, 2021 |
| Joubert syndrome 10 | 2 | Dec 4, 2021 |
| Joubert syndrome 14 | 1 | Feb 21, 2022 |
| Joubert syndrome 15 | 1 | Aug 23, 2021 |
| Joubert syndrome 17 | 1 | Aug 10, 2021 |
| Joubert syndrome 18 | 2 | Jan 25, 2022 |
| Joubert syndrome 2 | 4 | Feb 21, 2022 |
| Joubert syndrome 23 | 6 | Oct 18, 2021 |
| Joubert syndrome 24 | 3 | Jan 25, 2022 |
| Joubert syndrome 25 | 10 | Aug 23, 2021 |
| Joubert syndrome 27 | 3 | Aug 9, 2021 |
| Joubert syndrome 28 | 10 | Aug 30, 2021 |
| Joubert syndrome 3 | 4 | Aug 4, 2021 |
| Joubert syndrome 30 | 2 | Aug 9, 2021 |
| Joubert syndrome 31 | 2 | Aug 23, 2021 |
| Joubert syndrome 32 | 3 | Jan 25, 2022 |
| Joubert syndrome 33 | 2 | Dec 4, 2021 |
| Joubert syndrome 35 | 1 | Aug 9, 2021 |
| Joubert syndrome 38 | 9 | Oct 18, 2021 |
| Joubert syndrome 5 | 26 | Aug 30, 2021 |
| Joubert syndrome 6 | 2 | Feb 21, 2022 |
| Joubert syndrome 7 | 13 | Jul 25, 2021 |
| Joubert syndrome 9 | 13 | Aug 10, 2021 |
| Joubert syndrome with renal defect | 1 | Dec 4, 2021 |
| Juberg-Hayward syndrome | 2 | Jul 31, 2021 |
| Junctional epidermolysis bullosa gravis of Herlitz | 80 | Oct 18, 2021 |
| Junctional epidermolysis bullosa with pyloric atresia | 8 | Oct 18, 2021 |
| Junctional epidermolysis bullosa, non-Herlitz type | 86 | Oct 18, 2021 |
| Juvenile arthritis due to defect in LACC1 | 1 | Oct 18, 2021 |
| Juvenile nephropathic cystinosis | 1 | Aug 30, 2021 |
| Juvenile onset Parkinson disease 19A | 33 | Oct 18, 2023 |
| Juvenile primary lateral sclerosis | 10 | Aug 4, 2021 |
| Juvenile retinoschisis | 1 | Jun 16, 2021 |
| KBG syndrome | 115 | Jun 7, 2022 |
| Kabuki syndrome 1 | 1 | Oct 18, 2021 |
| Kabuki syndrome 2 | 3 | Oct 18, 2021 |
| Kartagener syndrome | 8 | Aug 30, 2021 |
| Karyomegalic interstitial nephritis | 3 | Sep 21, 2021 |
| Keipert syndrome | 3 | Sep 21, 2021 |
| Keppen-Lubinsky syndrome | 2 | Oct 18, 2021 |
| Keratitis fugax hereditaria | 3 | Nov 24, 2021 |
| Keratoconus 1 | 1 | May 15, 2022 |
| Keratoderma with scleroatrophy of the extremities | 4 | Jan 12, 2022 |
| Keratolytic winter erythema | 2 | Sep 11, 2021 |
| Keratosis follicularis | 17 | Jun 25, 2022 |
| Keratosis palmoplantaris striata 2 | 8 | Sep 11, 2021 |
| Keratosis pilaris | 12 | Oct 18, 2021 |
| Ketoacidosis due to monocarboxylate transporter-1 deficiency | 2 | Jan 10, 2022 |
| Keutel syndrome | 1 | Nov 10, 2021 |
| Khan-Khan-Katsanis syndrome | 2 | Nov 17, 2021 |
| Kindler syndrome | 6 | Sep 21, 2021 |
| King Denborough syndrome | 31 | Dec 15, 2021 |
| Kleefstra syndrome 1 | 3 | Sep 11, 2021 |
| Kleefstra syndrome 2 | 1 | Oct 18, 2021 |
| Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | 14 | Nov 17, 2021 |
| Knobloch syndrome | 11 | Sep 1, 2021 |
| Kostmann syndrome | 1 | Jul 17, 2021 |
| Krabbe disease due to saposin A deficiency | 11 | Dec 8, 2021 |
| Kufor-Rakeb syndrome | 8 | Aug 9, 2021 |
| L-2-hydroxyglutaric aciduria | 3 | Oct 18, 2021 |
| L-ferritin deficiency | 1 | Sep 21, 2021 |
| Lafora disease | 2 | Nov 24, 2021 |
| Lamb-Shaffer syndrome | 2 | Jan 12, 2022 |
| Laron-type isolated somatotropin defect | 2 | Sep 21, 2021 |
| Larsen-like syndrome, B3GAT3 type | 1 | Aug 9, 2021 |
| Laryngo-onycho-cutaneous syndrome | 25 | Aug 15, 2021 |
| Lateral meningocele syndrome | 19 | Nov 24, 2021 |
| Laurence-Moon syndrome | 13 | Dec 8, 2021 |
| Leber congenital amaurosis 1 | 2 | Sep 21, 2021 |
| Leber congenital amaurosis 13 | 6 | Aug 30, 2021 |
| Leber congenital amaurosis 15 | 5 | May 15, 2022 |
| Leber congenital amaurosis 19 | 6 | May 15, 2022 |
| Leber congenital amaurosis 2 | 9 | Sep 1, 2021 |
| Leber congenital amaurosis 3 | 2 | Jan 12, 2022 |
| Leber congenital amaurosis 5 | 5 | Jul 31, 2021 |
| Leber congenital amaurosis 6 | 76 | Dec 29, 2021 |
| Leber congenital amaurosis 8 | 190 | Dec 17, 2023 |
| Left ventricular noncompaction 10 | 5 | Nov 10, 2021 |
| Left ventricular noncompaction 7 | 1 | Nov 10, 2021 |
| Left ventricular noncompaction 8 | 5 | Oct 18, 2023 |
| Legius syndrome | 4 | Jan 12, 2022 |
| Lenz-Majewski hyperostosis syndrome | 3 | Dec 8, 2021 |
| Leprechaunism syndrome | 5 | Oct 18, 2021 |
| Lethal Kniest-like syndrome | 51 | Oct 18, 2023 |
| Lethal acantholytic epidermolysis bullosa | 8 | Sep 11, 2021 |
| Lethal arthrogryposis-anterior horn cell disease syndrome | 5 | Jul 31, 2021 |
| Lethal congenital contracture syndrome 1 | 5 | Jul 31, 2021 |
| Lethal congenital contracture syndrome 11 | 1 | Sep 21, 2021 |
| Lethal congenital contracture syndrome 2 | 4 | Sep 11, 2021 |
| Lethal congenital contracture syndrome 3 | 4 | Dec 4, 2021 |
| Lethal congenital contracture syndrome 4 | 9 | Nov 10, 2021 |
| Lethal congenital contracture syndrome 6 | 2 | May 15, 2022 |
| Lethal congenital contracture syndrome 7 | 3 | Sep 1, 2021 |
| Lethal congenital glycogen storage disease of heart | 1 | Dec 8, 2021 |
| Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome | 3 | Oct 18, 2021 |
| Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | 2 | Nov 10, 2021 |
| Lethal multiple pterygium syndrome | 4 | Aug 23, 2021 |
| Lethal osteosclerotic bone dysplasia | 11 | Sep 21, 2021 |
| Leukocyte adhesion deficiency 1 | 5 | Oct 18, 2021 |
| Leukocyte adhesion deficiency type II | 2 | Jan 12, 2022 |
| Leukodystrophy and acquired microcephaly with or without dystonia; | 9 | Dec 8, 2021 |
| Leukodystrophy, hypomyelinating, 14 | 1 | May 15, 2022 |
| Leukodystrophy, hypomyelinating, 15 | 5 | Sep 11, 2021 |
| Leukodystrophy, hypomyelinating, 16 | 4 | Feb 21, 2022 |
| Leukodystrophy, hypomyelinating, 19, transient infantile | 3 | Feb 21, 2022 |
| Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | 42 | Oct 18, 2023 |
| Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate | 2 | Jan 10, 2022 |
| Leukoencephalopathy, progressive, with ovarian failure | 9 | Aug 2, 2021 |
| Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome | 7 | Sep 11, 2021 |
| Lewy body dementia | 1 | Jan 12, 2022 |
| Li-Fraumeni syndrome 1 | 633 | Oct 6, 2022 |
| Liang-Wang syndrome | 1 | Oct 18, 2021 |
| Lichtenstein-Knorr syndrome | 3 | Jan 12, 2022 |
| Liddle syndrome 1 | 2 | Jan 10, 2022 |
| Liddle syndrome 2 | 6 | Jan 10, 2022 |
| Liddle syndrome 3 | 2 | Jan 10, 2022 |
| Limb-girdle muscular dystrophy due to POMK deficiency | 1 | Dec 8, 2021 |
| Lipid proteinosis | 9 | Oct 18, 2023 |
| Lipoic acid synthetase deficiency | 2 | Oct 18, 2021 |
| Lipoyl transferase 1 deficiency | 2 | Oct 18, 2021 |
| Lissencephaly 10 | 3 | Aug 23, 2021 |
| Lissencephaly 6 with microcephaly | 2 | Oct 18, 2021 |
| Lissencephaly 9 with complex brainstem malformation | 51 | Oct 18, 2023 |
| Lissencephaly due to LIS1 mutation | 1 | Dec 4, 2021 |
| Lissencephaly due to TUBA1A mutation | 2 | May 15, 2022 |
| Loeys-Dietz syndrome 1 | 1 | Feb 21, 2022 |
| Loeys-Dietz syndrome 2 | 1 | Feb 21, 2022 |
| Long QT syndrome 11 | 84 | Jun 7, 2022 |
| Long QT syndrome 12 | 1 | Jan 12, 2022 |
| Long QT syndrome 13 | 5 | Oct 18, 2021 |
| Long QT syndrome 15 | 2 | Aug 10, 2021 |
| Long QT syndrome 16 | 2 | Aug 10, 2021 |
| Long QT syndrome 2 | 5 | Oct 18, 2021 |
| Long QT syndrome 5 | 1 | Oct 18, 2021 |
| Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 12 | Aug 15, 2021 |
| Lower motor neuron syndrome with late-adult onset | 4 | Aug 23, 2021 |
| Luscan-Lumish syndrome | 58 | Jul 28, 2022 |
| Lymphatic malformation 6 | 34 | Dec 4, 2021 |
| Lymphatic malformation 7 | 5 | Sep 11, 2021 |
| Lymphatic malformation 8 | 2 | Aug 10, 2021 |
| Lymphedema-posterior choanal atresia syndrome | 7 | Dec 15, 2021 |
| Lymphoproliferative syndrome 2 | 2 | Aug 10, 2021 |
| Lysinuric protein intolerance | 42 | Dec 29, 2021 |
| Lysosomal acid lipase deficiency | 8 | Jul 20, 2021 |
| MASA syndrome | 1 | Oct 18, 2021 |
| MEDNIK syndrome | 1 | Aug 9, 2021 |
| MEGF10-related myopathy | 2 | Nov 10, 2021 |
| MEGF8-related Carpenter syndrome | 8 | Nov 10, 2021 |
| MEHMO syndrome | 1 | Sep 11, 2021 |
| MEND syndrome | 1 | Sep 11, 2021 |
| MHC class I deficiency | 11 | Jan 25, 2022 |
| MHC class II deficiency | 55 | Oct 18, 2023 |
| MORM syndrome | 6 | Oct 18, 2021 |
| MPI-congenital disorder of glycosylation | 4 | Jul 25, 2021 |
| MYH7-related skeletal myopathy | 2 | Nov 17, 2021 |
| MYPN-related myopathy | 10 | Nov 17, 2021 |
| Macrocephaly, dysmorphic facies, and psychomotor retardation | 11 | Sep 21, 2021 |
| Macrocephaly-autism syndrome | 1 | Dec 8, 2021 |
| Macrocephaly-developmental delay syndrome | 1 | Oct 18, 2021 |
| Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 7 | Nov 10, 2021 |
| Macrocephaly/megalencephaly syndrome, autosomal recessive | 2 | Jan 25, 2022 |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 7 | Nov 17, 2021 |
| Macular degeneration, X-linked atrophic | 3 | Dec 15, 2021 |
| Macular degeneration, age-related, 3 | 1 | Sep 21, 2021 |
| Macular degeneration, early-onset | 4 | Sep 21, 2021 |
| Majeed syndrome | 1 | May 19, 2021 |
| Malignant hyperthermia, susceptibility to, 5 | 355 | Dec 17, 2023 |
| Malignant tumor of prostate | 3 | Aug 10, 2021 |
| Mandibular hypoplasia-deafness-progeroid syndrome | 9 | Dec 8, 2021 |
| Mandibulofacial dysostosis with alopecia | 2 | Sep 11, 2021 |
| Mandibulofacial dysostosis-microcephaly syndrome | 3 | Sep 11, 2021 |
| Maple syrup urine disease | 219 | Oct 18, 2023 |
| Marden-Walker syndrome | 24 | Dec 4, 2021 |
| Marinesco-Sjögren syndrome | 1 | Jan 10, 2022 |
| Marshall syndrome | 16 | Sep 1, 2021 |
| Martsolf syndrome | 3 | Dec 15, 2021 |
| Martsolf syndrome 2 | 2 | Dec 15, 2021 |
| Mast syndrome | 1 | Jan 12, 2022 |
| Maturity-onset diabetes of the young type 10 | 1 | Aug 2, 2021 |
| Maturity-onset diabetes of the young type 11 | 8 | Aug 9, 2021 |
| Maturity-onset diabetes of the young type 3 | 9 | Sep 21, 2021 |
| Maturity-onset diabetes of the young type 6 | 1 | Nov 24, 2021 |
| Meacham syndrome | 18 | May 15, 2022 |
| Meckel syndrome 13 | 2 | Feb 21, 2022 |
| Meckel syndrome, type 1 | 5 | Aug 20, 2021 |
| Meckel syndrome, type 10 | 5 | Aug 9, 2021 |
| Meckel syndrome, type 2 | 4 | Feb 21, 2022 |
| Meckel syndrome, type 3 | 2 | Feb 21, 2022 |
| Meckel syndrome, type 4 | 16 | Aug 23, 2021 |
| Meckel syndrome, type 5 | 12 | Jul 25, 2021 |
| Meckel syndrome, type 6 | 13 | Aug 10, 2021 |
| Meckel syndrome, type 8 | 3 | Jan 25, 2022 |
| Meckel syndrome, type 9 | 3 | Aug 9, 2021 |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 14 | Aug 11, 2021 |
| Meester-Loeys syndrome | 5 | Aug 9, 2021 |
| Megaconial type congenital muscular dystrophy | 1 | Aug 23, 2021 |
| Megacystis, microcolon, hypoperistalsis syndrome | 6 | Nov 17, 2021 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 | 12 | Nov 10, 2021 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | 4 | Aug 4, 2021 |
| Megalencephalic leukoencephalopathy with subcortical cysts 1 | 44 | Nov 10, 2021 |
| Megalencephalic leukoencephalopathy with subcortical cysts 2A | 2 | Sep 21, 2021 |
| Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability | 2 | Sep 21, 2021 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 4 | Dec 4, 2021 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | 2 | Aug 10, 2021 |
| Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 1 | Jan 10, 2022 |
| Meier-Gorlin syndrome 2 | 3 | Dec 4, 2021 |
| Meier-Gorlin syndrome 3 | 1 | Dec 4, 2021 |
| Meier-Gorlin syndrome 4 | 4 | Aug 23, 2021 |
| Meier-Gorlin syndrome 8 | 1 | Nov 10, 2021 |
| Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency | 5 | Oct 18, 2021 |
| Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency | 6 | Aug 2, 2021 |
| Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency | 1 | Oct 18, 2021 |
| Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | 1 | Jan 12, 2022 |
| Menke-Hennekam syndrome 2 | 5 | Sep 11, 2021 |
| Menkes kinky-hair syndrome | 4 | Aug 11, 2021 |
| Merosin deficient congenital muscular dystrophy | 12 | Oct 18, 2021 |
| Mesoaxial synostotic syndactyly with phalangeal reduction | 1 | Aug 2, 2021 |
| Metabolic myopathy due to lactate transporter defect | 2 | Jan 10, 2022 |
| Metachromatic leukodystrophy | 13 | Aug 30, 2021 |
| Metaphyseal anadysplasia 2 | 8 | Nov 10, 2021 |
| Metaphyseal chondrodysplasia, Jansen type | 2 | Dec 15, 2021 |
| Metaphyseal chondrodysplasia, Schmid type | 1 | Sep 1, 2021 |
| Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome | 6 | Sep 11, 2021 |
| Methylcobalamin deficiency type cblE | 8 | Nov 10, 2021 |
| Methylcobalamin deficiency type cblG | 7 | Nov 10, 2021 |
| Methylmalonate semialdehyde dehydrogenase deficiency | 1 | Aug 4, 2021 |
| Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency | 2 | Nov 10, 2021 |
| Methylmalonic acidemia with homocystinuria, type cblJ | 5 | Aug 4, 2021 |
| Methylmalonic acidemia with homocystinuria, type cblX | 8 | Sep 21, 2021 |
| Methylmalonic aciduria and homocystinuria type cblD | 2 | Nov 10, 2021 |
| Methylmalonic aciduria and homocystinuria type cblF | 2 | Oct 18, 2021 |
| Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 9 | Nov 10, 2021 |
| Methylmalonic aciduria, cblA type | 6 | Aug 20, 2021 |
| Methylmalonic aciduria, cblB type | 6 | Aug 30, 2021 |
| Microcephalic osteodysplastic dysplasia, Saul-Wilson type | 4 | Sep 1, 2021 |
| Microcephalic osteodysplastic primordial dwarfism type II | 16 | Dec 4, 2021 |
| Microcephalic primordial dwarfism due to RTTN deficiency | 9 | Dec 15, 2021 |
| Microcephalic primordial dwarfism due to ZNF335 deficiency | 31 | May 15, 2022 |
| Microcephaly 1, primary, autosomal recessive | 10 | Nov 10, 2021 |
| Microcephaly 11, primary, autosomal recessive | 5 | Dec 4, 2021 |
| Microcephaly 13, primary, autosomal recessive | 4 | Aug 23, 2021 |
| Microcephaly 14, primary, autosomal recessive | 6 | Oct 18, 2023 |
| Microcephaly 16, primary, autosomal recessive | 10 | Aug 9, 2021 |
| Microcephaly 17, primary, autosomal recessive | 6 | Aug 23, 2021 |
| Microcephaly 18, primary, autosomal dominant | 2 | May 15, 2022 |
| Microcephaly 19, primary, autosomal recessive | 3 | Sep 11, 2021 |
| Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 46 | May 15, 2022 |
| Microcephaly 20, primary, autosomal recessive | 3 | Oct 18, 2021 |
| Microcephaly 21, primary, autosomal recessive | 8 | Nov 17, 2021 |
| Microcephaly 22, primary, autosomal recessive | 5 | Nov 17, 2021 |
| Microcephaly 23, primary, autosomal recessive | 2 | Nov 17, 2021 |
| Microcephaly 25, primary, autosomal recessive | 1 | Aug 10, 2021 |
| Microcephaly 3, primary, autosomal recessive | 8 | Aug 10, 2021 |
| Microcephaly 4, primary, autosomal recessive | 12 | Aug 10, 2021 |
| Microcephaly 5, primary, autosomal recessive | 297 | Dec 17, 2023 |
| Microcephaly 6, primary, autosomal recessive | 4 | Aug 23, 2021 |
| Microcephaly 7, primary, autosomal recessive | 3 | Oct 18, 2023 |
| Microcephaly 9, primary, autosomal recessive | 1 | Aug 23, 2021 |
| Microcephaly and chorioretinopathy 1 | 6 | May 15, 2022 |
| Microcephaly and chorioretinopathy 2 | 2 | Dec 8, 2021 |
| Microcephaly and chorioretinopathy 3 | 2 | May 15, 2022 |
| Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome | 10 | Aug 1, 2022 |
| Microcephaly, growth deficiency, seizures, and brain malformations | 5 | May 15, 2022 |
| Microcephaly, growth restriction, and increased sister chromatid exchange 2 | 6 | Feb 21, 2022 |
| Microcephaly, normal intelligence and immunodeficiency | 717 | Dec 29, 2021 |
| Microcephaly, seizures, and developmental delay | 1 | Dec 8, 2021 |
| Microcephaly-capillary malformation syndrome | 2 | Jan 12, 2022 |
| Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | 2 | Jan 12, 2022 |
| Microcephaly-thin corpus callosum-intellectual disability syndrome | 11 | Jan 25, 2022 |
| Microcytic anemia with liver iron overload | 3 | Jan 10, 2022 |
| Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 13 | Feb 21, 2022 |
| Microphthalmia with brain and digit anomalies | 4 | Aug 9, 2021 |
| Microphthalmia with limb anomalies | 6 | Jan 12, 2022 |
| Microphthalmia, isolated, with coloboma 10 | 1 | Dec 15, 2021 |
| Microphthalmia, isolated, with coloboma 3 | 3 | Jul 20, 2021 |
| Microphthalmia, isolated, with coloboma 5 | 1 | Jan 10, 2022 |
| Microphthalmia, isolated, with coloboma 9 | 5 | Feb 21, 2022 |
| Microspherophakia | 4 | Nov 10, 2021 |
| Migraine, familial hemiplegic, 1 | 20 | Aug 10, 2021 |
| Migraine, familial hemiplegic, 2 | 68 | Jun 25, 2022 |
| Miller syndrome | 3 | Sep 11, 2021 |
| Mirror movements 1 | 6 | Sep 11, 2021 |
| Mismatch repair cancer syndrome 4 | 4 | Dec 8, 2021 |
| Mitchell syndrome | 7 | Aug 11, 2021 |
| Mitochondrial DNA deletion syndrome with progressive myopathy | 1 | Sep 11, 2021 |
| Mitochondrial DNA depletion syndrome 1 | 5 | May 15, 2022 |
| Mitochondrial DNA depletion syndrome 11 | 1 | Nov 10, 2021 |
| Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) | 4 | Dec 4, 2021 |
| Mitochondrial DNA depletion syndrome 16 (hepatic type) | 3 | Dec 8, 2021 |
| Mitochondrial DNA depletion syndrome 18 | 3 | Jan 10, 2022 |
| Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | 1 | Sep 11, 2021 |
| Mitochondrial DNA depletion syndrome 4b | 5 | Dec 8, 2021 |
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 1 | Jul 28, 2021 |
| Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | 3 | Jan 25, 2022 |
| Mitochondrial DNA depletion syndrome, myopathic form | 3 | Feb 21, 2022 |
| Mitochondrial complex 1 deficiency, nuclear type 10 | 2 | Nov 17, 2021 |
| Mitochondrial complex 1 deficiency, nuclear type 11 | 2 | Nov 17, 2021 |
| Mitochondrial complex 1 deficiency, nuclear type 14 | 1 | Nov 17, 2021 |
| Mitochondrial complex 1 deficiency, nuclear type 15 | 3 | Nov 17, 2021 |
| Mitochondrial complex 1 deficiency, nuclear type 16 | 5 | Nov 17, 2021 |
| Mitochondrial complex 1 deficiency, nuclear type 17 | 3 | Nov 17, 2021 |
| Mitochondrial complex 1 deficiency, nuclear type 19 | 1 | Sep 21, 2021 |
| Mitochondrial complex 1 deficiency, nuclear type 2 | 2 | Nov 17, 2021 |
| Mitochondrial complex 1 deficiency, nuclear type 21 | 2 | Dec 4, 2021 |
| Mitochondrial complex 1 deficiency, nuclear type 22 | 3 | Nov 17, 2021 |
| Mitochondrial complex 1 deficiency, nuclear type 26 | 2 | Nov 17, 2021 |
| Mitochondrial complex 1 deficiency, nuclear type 3 | 2 | Aug 2, 2021 |
| Mitochondrial complex 1 deficiency, nuclear type 31 | 1 | Feb 21, 2022 |
| Mitochondrial complex 1 deficiency, nuclear type 33 | 1 | Nov 17, 2021 |
| Mitochondrial complex 1 deficiency, nuclear type 5 | 3 | Nov 17, 2021 |
| Mitochondrial complex 1 deficiency, nuclear type 6 | 27 | Oct 18, 2023 |
| Mitochondrial complex 1 deficiency, nuclear type 7 | 2 | Nov 17, 2021 |
| Mitochondrial complex 1 deficiency, nuclear type 9 | 5 | Aug 2, 2021 |
| Mitochondrial complex 2 deficiency, nuclear type 2 | 1 | Jan 10, 2022 |
| Mitochondrial complex 2 deficiency, nuclear type 3 | 4 | Jan 10, 2022 |
| Mitochondrial complex 2 deficiency, nuclear type 4 | 2 | Jan 10, 2022 |
| Mitochondrial complex 3 deficiency, nuclear type 10 | 2 | May 15, 2022 |
| Mitochondrial complex 4 deficiency, nuclear type 17 | 1 | Aug 9, 2021 |
| Mitochondrial complex I deficiency, nuclear type 1 | 4 | Nov 17, 2021 |
| Mitochondrial complex II deficiency, nuclear type 1 | 4 | Aug 2, 2021 |
| Mitochondrial complex III deficiency nuclear type 1 | 5 | Aug 30, 2021 |
| Mitochondrial complex III deficiency nuclear type 2 | 2 | Mar 2, 2022 |
| Mitochondrial complex III deficiency nuclear type 3 | 1 | May 15, 2022 |
| Mitochondrial complex III deficiency nuclear type 5 | 1 | May 15, 2022 |
| Mitochondrial complex III deficiency nuclear type 6 | 3 | Sep 11, 2021 |
| Mitochondrial complex III deficiency nuclear type 9 | 1 | Aug 10, 2021 |
| Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | 2 | Feb 21, 2022 |
| Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) | 3 | Dec 8, 2021 |
| Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | 2 | Sep 21, 2021 |
| Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | 1 | Nov 10, 2021 |
| Mitochondrial myopathy-lactic acidosis-deafness syndrome | 2 | Dec 8, 2021 |
| Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | 4 | Sep 11, 2021 |
| Mitochondrial trifunctional protein deficiency | 2 | Aug 15, 2021 |
| Miyoshi muscular dystrophy 1 | 88 | Dec 4, 2023 |
| Miyoshi muscular dystrophy 3 | 39 | Jun 25, 2022 |
| Monocytopenia with susceptibility to infections | 3 | Sep 21, 2021 |
| Mosaic variegated aneuploidy syndrome 1 | 4 | Aug 10, 2021 |
| Mosaic variegated aneuploidy syndrome 3 | 2 | Feb 21, 2022 |
| Mowat-Wilson syndrome | 128 | Dec 29, 2021 |
| Moyamoya disease with early-onset achalasia | 1 | Sep 21, 2021 |
| Mucolipidosis type II | 21 | Sep 21, 2021 |
| Mucolipidosis type IV | 20 | Aug 20, 2021 |
| Mucopolysaccharidosis type 6 | 8 | Aug 30, 2021 |
| Mucopolysaccharidosis type 7 | 4 | Sep 21, 2021 |
| Mucopolysaccharidosis, MPS-I-H/S | 15 | Aug 2, 2021 |
| Mucopolysaccharidosis, MPS-I-S | 14 | Aug 2, 2021 |
| Mucopolysaccharidosis, MPS-II | 36 | Nov 24, 2021 |
| Mucopolysaccharidosis, MPS-III-A | 166 | Dec 29, 2021 |
| Mucopolysaccharidosis, MPS-III-B | 4 | Nov 17, 2021 |
| Mucopolysaccharidosis, MPS-III-C | 5 | Aug 15, 2021 |
| Mucopolysaccharidosis, MPS-III-D | 7 | Sep 21, 2021 |
| Mucopolysaccharidosis, MPS-IV-A | 136 | Dec 29, 2021 |
| Mucopolysaccharidosis, MPS-IV-B | 7 | Sep 21, 2021 |
| Mucopolysaccharidosis-plus syndrome | 2 | May 15, 2022 |
| Mulibrey nanism syndrome | 1 | Feb 21, 2022 |
| Mullegama-Klein-Martinez syndrome | 1 | Jan 12, 2022 |
| Multicentric osteolysis nodulosis arthropathy spectrum | 6 | Nov 10, 2021 |
| Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome | 2 | Aug 23, 2021 |
| Multiple acyl-CoA dehydrogenase deficiency | 11 | Sep 11, 2021 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 6 | Dec 4, 2021 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 4 | Dec 4, 2021 |
| Multiple congenital exostosis | 2 | Sep 21, 2021 |
| Multiple cutaneous and mucosal venous malformations | 7 | Feb 21, 2022 |
| Multiple endocrine neoplasia type 2A | 5 | Dec 15, 2021 |
| Multiple endocrine neoplasia type 2B | 5 | Dec 15, 2021 |
| Multiple endocrine neoplasia type 4 | 1 | Aug 23, 2021 |
| Multiple epiphyseal dysplasia type 4 | 7 | Sep 1, 2021 |
| Multiple epiphyseal dysplasia, Al-Gazali type | 12 | Oct 18, 2021 |
| Multiple mitochondrial dysfunctions syndrome 1 | 1 | Nov 24, 2021 |
| Multiple mitochondrial dysfunctions syndrome 3 | 2 | Sep 21, 2021 |
| Multiple mitochondrial dysfunctions syndrome 6 | 1 | Dec 8, 2021 |
| Multiple sulfatase deficiency | 20 | Jan 25, 2022 |
| Multiple synostoses syndrome 3 | 4 | Sep 21, 2021 |
| Mungan syndrome | 3 | Dec 15, 2021 |
| Muscular dystrophy, limb-girdle, autosomal dominant 4 | 18 | Aug 30, 2021 |
| Muscular dystrophy, limb-girdle, autosomal recessive 23 | 12 | Oct 18, 2021 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 11 | Sep 21, 2021 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | 14 | Dec 8, 2021 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 | 1 | Sep 21, 2021 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 | 4 | Dec 8, 2021 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | 22 | Dec 8, 2021 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | 8 | Aug 30, 2021 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 | 1 | Sep 11, 2021 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 | 1 | Feb 21, 2022 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 2 | Aug 9, 2021 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 | 1 | Dec 8, 2021 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | 2 | Dec 8, 2021 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | 14 | Dec 8, 2021 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 | 1 | Sep 21, 2021 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 | 4 | Dec 8, 2021 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | 15 | Dec 8, 2021 |
| Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 | 9 | Sep 21, 2021 |
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 | 2 | Dec 8, 2021 |
| Muscular dystrophy-dystroglycanopathy type B5 | 7 | Aug 15, 2021 |
| Myasthenic syndrome, congenital, 1B, fast-channel | 4 | Aug 23, 2021 |
| Myasthenic syndrome, congenital, 22 | 3 | Dec 8, 2021 |
| Myasthenic syndrome, congenital, 24, presynaptic | 3 | Nov 17, 2021 |
| Myasthenic syndrome, congenital, 25, presynaptic | 3 | May 15, 2022 |
| Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive | 3 | Jan 25, 2022 |
| Myoclonic dystonia 11 | 2 | Jan 10, 2022 |
| Myoclonic dystonia 26 | 1 | Oct 18, 2021 |
| Myoclonus, familial, 2 | 8 | Jan 10, 2022 |
| Myoclonus, intractable, neonatal | 1 | Oct 18, 2021 |
| Myofibrillar myopathy 11 | 1 | May 15, 2022 |
| Myofibrillar myopathy 2 | 1 | Sep 11, 2021 |
| Myofibrillar myopathy 4 | 1 | Oct 18, 2021 |
| Myofibrillar myopathy 6 | 3 | Aug 9, 2021 |
| Myofibrillar myopathy 7 | 4 | Oct 18, 2021 |
| Myofibrillar myopathy 8 | 9 | Dec 15, 2021 |
| Myoglobinuria, acute recurrent, autosomal recessive | 3 | Oct 18, 2021 |
| Myopathy, centronuclear, 2 | 13 | Aug 9, 2021 |
| Myopathy, centronuclear, 5 | 9 | Jan 12, 2022 |
| Myopathy, centronuclear, 6, with fiber-type disproportion | 5 | Nov 10, 2021 |
| Myopathy, congenital, progressive, with scoliosis | 1 | Dec 4, 2021 |
| Myopathy, congenital, with structured cores and z-line abnormalities | 10 | Aug 4, 2021 |
| Myopathy, congenital, with tremor | 9 | Nov 10, 2021 |
| Myopathy, distal, 5 | 5 | Aug 4, 2021 |
| Myopathy, distal, with rimmed vacuoles | 3 | Jan 12, 2022 |
| Myopathy, epilepsy, and progressive cerebral atrophy | 17 | Oct 18, 2023 |
| Myopathy, lactic acidosis, and sideroblastic anemia 1 | 1 | Jul 20, 2021 |
| Myopathy, lactic acidosis, and sideroblastic anemia 2 | 10 | May 15, 2022 |
| Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy | 1 | Nov 17, 2021 |
| Myopathy, myofibrillar, 9, with early respiratory failure | 635 | Mar 2, 2022 |
| Myopathy, myosin storage, autosomal recessive | 2 | Nov 17, 2021 |
| Myopathy, proximal, and ophthalmoplegia | 6 | Nov 10, 2021 |
| Myopathy, reducing body, X-linked, childhood-onset | 1 | Sep 21, 2021 |
| Myopathy, reducing body, X-linked, early-onset, severe | 1 | Sep 21, 2021 |
| Myopathy, tubular aggregate, 1 | 3 | Jan 12, 2022 |
| Myopia 24, autosomal dominant | 2 | Jan 12, 2022 |
| Myopia 6 | 4 | Jan 10, 2022 |
| Myopia, high, with cataract and vitreoretinal degeneration | 5 | Oct 18, 2021 |
| Myosclerosis | 12 | Sep 11, 2021 |
| Myosin storage myopathy | 4 | Nov 17, 2021 |
| Myotonic dystrophy type 2 | 1 | Sep 1, 2021 |
| NEK9-related lethal skeletal dysplasia | 3 | Nov 24, 2021 |
| Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome | 3 | Sep 21, 2021 |
| Nail-patella syndrome | 3 | Oct 18, 2021 |
| Nail-patella-like renal disease | 3 | Oct 18, 2021 |
| Nance-Horan syndrome | 1 | Nov 24, 2021 |
| Naxos disease | 5 | Oct 18, 2021 |
| Nemaline myopathy 2 | 74 | Aug 20, 2021 |
| Nemaline myopathy 5 | 1 | Feb 21, 2022 |
| Nemaline myopathy 6 | 4 | Oct 18, 2021 |
| Nemaline myopathy 8 | 2 | Oct 18, 2021 |
| Neonatal diabetes mellitus with congenital hypothyroidism | 1 | Sep 21, 2021 |
| Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | 1 | Sep 11, 2021 |
| Neonatal ichthyosis-sclerosing cholangitis syndrome | 1 | Aug 23, 2021 |
| Neonatal intrahepatic cholestasis due to citrin deficiency | 6 | Aug 23, 2021 |
| Neonatal severe primary hyperparathyroidism | 5 | Aug 10, 2021 |
| Nephrogenic syndrome of inappropriate antidiuresis | 2 | Aug 9, 2021 |
| Nephronophthisis 1 | 1 | Dec 4, 2021 |
| Nephronophthisis 11 | 2 | Feb 21, 2022 |
| Nephronophthisis 13 | 21 | May 15, 2022 |
| Nephronophthisis 14 | 25 | May 15, 2022 |
| Nephronophthisis 15 | 8 | Aug 23, 2021 |
| Nephronophthisis 16 | 4 | Aug 9, 2021 |
| Nephronophthisis 19 | 4 | Sep 11, 2021 |
| Nephronophthisis 4 | 11 | Oct 18, 2023 |
| Nephronophthisis 7 | 1 | Sep 21, 2021 |
| Nephropathic cystinosis | 15 | Aug 30, 2021 |
| Nephrotic syndrome 14 | 4 | Jan 10, 2022 |
| Nephrotic syndrome 15 | 3 | Nov 10, 2021 |
| Nephrotic syndrome, type 10 | 1 | Sep 11, 2021 |
| Nephrotic syndrome, type 11 | 3 | Dec 4, 2021 |
| Nephrotic syndrome, type 12 | 4 | Dec 4, 2021 |
| Nephrotic syndrome, type 13 | 5 | Dec 4, 2021 |
| Nephrotic syndrome, type 17 | 4 | Dec 4, 2021 |
| Nephrotic syndrome, type 18 | 1 | Dec 4, 2021 |
| Nephrotic syndrome, type 19 | 2 | Dec 4, 2021 |
| Nephrotic syndrome, type 2 | 76 | Oct 18, 2023 |
| Nephrotic syndrome, type 20 | 1 | Jan 25, 2022 |
| Nephrotic syndrome, type 21 | 1 | Aug 9, 2021 |
| Nephrotic syndrome, type 3 | 7 | Dec 8, 2021 |
| Nephrotic syndrome, type 4 | 18 | May 15, 2022 |
| Nephrotic syndrome, type 9 | 2 | Aug 4, 2021 |
| Netherton syndrome | 27 | Jan 12, 2022 |
| Neu-Laxova syndrome 1 | 56 | Oct 18, 2023 |
| Neu-Laxova syndrome 2 | 4 | Dec 8, 2021 |
| Neural tube defect | 1 | May 15, 2022 |
| Neurodegeneration with ataxia and late-onset optic atrophy | 4 | Aug 2, 2021 |
| Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 3 | Jan 12, 2022 |
| Neurodegeneration with brain iron accumulation 4 | 1 | Aug 10, 2021 |
| Neurodegeneration with brain iron accumulation 5 | 1 | May 15, 2022 |
| Neurodegeneration with brain iron accumulation 6 | 2 | Sep 1, 2021 |
| Neurodegeneration with brain iron accumulation 8 | 2 | Sep 11, 2021 |
| Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities | 1 | Oct 18, 2023 |
| Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia | 6 | Oct 18, 2021 |
| Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia | 3 | Dec 4, 2021 |
| Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies | 15 | Sep 11, 2021 |
| Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies | 22 | Aug 2, 2021 |
| Neurodevelopmental disorder with central and peripheral motor dysfunction | 4 | Nov 24, 2021 |
| Neurodevelopmental disorder with cerebellar hypoplasia and spasticity | 3 | Oct 18, 2021 |
| Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | 2 | Oct 18, 2021 |
| Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | 1 | Aug 9, 2021 |
| Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | 1 | May 15, 2022 |
| Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia | 3 | Nov 10, 2021 |
| Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination | 1 | Nov 17, 2021 |
| Neurodevelopmental disorder with hyperkinetic movements and dyskinesia | 26 | Jun 7, 2022 |
| Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements | 1 | May 15, 2022 |
| Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures | 3 | Dec 4, 2021 |
| Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | 7 | Dec 8, 2021 |
| Neurodevelopmental disorder with hypotonia, microcephaly, and seizures | 1 | Aug 4, 2021 |
| Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation | 4 | Dec 15, 2021 |
| Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | 11 | Jan 12, 2022 |
| Neurodevelopmental disorder with hypotonia, seizures, and absent language | 7 | Sep 21, 2021 |
| Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | 1 | Sep 11, 2021 |
| Neurodevelopmental disorder with impaired speech and hyperkinetic movements | 2 | May 15, 2022 |
| Neurodevelopmental disorder with involuntary movements | 2 | Sep 21, 2021 |
| Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies | 4 | Jan 12, 2022 |
| Neurodevelopmental disorder with microcephaly, ataxia, and seizures | 2 | Dec 15, 2021 |
| Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | 8 | Aug 2, 2021 |
| Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | 2 | Feb 21, 2022 |
| Neurodevelopmental disorder with midbrain and hindbrain malformations | 4 | Aug 9, 2021 |
| Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 4 | Dec 15, 2021 |
| Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities | 2 | Dec 4, 2021 |
| Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | 4 | Sep 21, 2021 |
| Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | 10 | Aug 2, 2021 |
| Neurodevelopmental disorder with poor language and loss of hand skills | 4 | Sep 21, 2021 |
| Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | 1 | Oct 18, 2023 |
| Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | 5 | Oct 18, 2021 |
| Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | 3 | Aug 10, 2021 |
| Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures | 2 | May 15, 2022 |
| Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies | 6 | Jan 10, 2022 |
| Neurodevelopmental disorder with speech impairment and dysmorphic facies | 1 | Jan 10, 2022 |
| Neurodevelopmental disorder with visual defects and brain anomalies | 6 | Sep 21, 2021 |
| Neurofacioskeletal syndrome with or without renal agenesis | 2 | Oct 18, 2023 |
| Neuroferritinopathy | 1 | Sep 21, 2021 |
| Neurofibromatosis, type 1 | 2196 | Aug 15, 2022 |
| Neurofibromatosis, type 2 | 122 | Dec 29, 2021 |
| Neurogenic scapuloperoneal syndrome, Kaeser type | 3 | Sep 11, 2021 |
| Neuronal ceroid lipofuscinosis 1 | 9 | Jul 17, 2021 |
| Neuronal ceroid lipofuscinosis 10 | 2 | Aug 2, 2021 |
| Neuronal ceroid lipofuscinosis 11 | 1 | Sep 21, 2021 |
| Neuronal ceroid lipofuscinosis 13 | 3 | Sep 11, 2021 |
| Neuronal ceroid lipofuscinosis 2 | 10 | Aug 23, 2021 |
| Neuronal ceroid lipofuscinosis 3 | 85 | Dec 4, 2023 |
| Neuronal ceroid lipofuscinosis 5 | 82 | Nov 24, 2021 |
| Neuronal ceroid lipofuscinosis 7 | 1 | Jun 8, 2021 |
| Neuronal ceroid lipofuscinosis 8 | 2 | Jul 31, 2021 |
| Neuronal ceroid lipofuscinosis 8 northern epilepsy variant | 2 | Jul 31, 2021 |
| Neuronopathy, distal hereditary motor, autosomal recessive 4 | 6 | Oct 18, 2023 |
| Neuronopathy, distal hereditary motor, autosomal recessive 5 | 3 | Sep 11, 2021 |
| Neuronopathy, distal hereditary motor, autosomal recessive 7 | 1 | Oct 18, 2023 |
| Neuronopathy, distal hereditary motor, autosomal recessive 8 | 3 | Jan 12, 2022 |
| Neuronopathy, distal hereditary motor, type 2C | 2 | Sep 21, 2021 |
| Neuronopathy, distal hereditary motor, type 2D | 5 | Sep 21, 2021 |
| Neuronopathy, distal hereditary motor, type 5A | 3 | Sep 21, 2021 |
| Neuronopathy, distal hereditary motor, type 5B | 4 | Dec 15, 2021 |
| Neuronopathy, distal hereditary motor, type 5C | 4 | Aug 9, 2021 |
| Neuronopathy, distal hereditary motor, type 7A | 1 | Jan 12, 2022 |
| Neuronopathy, distal hereditary motor, type 9 | 3 | May 15, 2022 |
| Neurooculocardiogenitourinary syndrome | 1 | Aug 2, 2021 |
| Neuropathy, congenital hypomyelinating, 3 | 3 | Sep 1, 2021 |
| Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy | 3 | Dec 4, 2021 |
| Neuropathy, hereditary sensory and autonomic, type 1C | 5 | Jan 12, 2022 |
| Neuropathy, hereditary sensory and autonomic, type 2A | 18 | Aug 2, 2021 |
| Neuropathy, hereditary sensory and autonomic, type 2B | 3 | Sep 21, 2021 |
| Neuropathy, hereditary sensory, type 1D | 24 | Jun 25, 2022 |
| Neuropathy, hereditary sensory, type 1F | 11 | Jun 25, 2022 |
| Neuropathy, hereditary sensory, type 2C | 1 | Oct 18, 2021 |
| Neutral 1 amino acid transport defect | 8 | Jan 12, 2022 |
| Neutral lipid storage myopathy | 3 | Aug 2, 2021 |
| Neutropenia, severe congenital, 2, autosomal dominant | 1 | Sep 21, 2021 |
| Neutrophil immunodeficiency syndrome | 4 | Dec 15, 2021 |
| Nicolaides-Baraitser syndrome | 5 | Jan 12, 2022 |
| Niemann-Pick disease, type A | 14 | Jan 12, 2022 |
| Niemann-Pick disease, type B | 11 | Jan 12, 2022 |
| Niemann-Pick disease, type C1 | 28 | Aug 30, 2021 |
| Niemann-Pick disease, type C2 | 5 | Aug 30, 2021 |
| Night blindness, congenital stationary, type1i | 2 | Sep 21, 2021 |
| Nizon-Isidor syndrome | 6 | Nov 10, 2021 |
| Non-acquired combined pituitary hormone deficiency with spine abnormalities | 6 | Jul 31, 2021 |
| Non-ketotic hyperglycinemia | 17 | Sep 21, 2021 |
| Nonsyndromic congenital nail disorder 1 | 1 | Sep 21, 2021 |
| Noonan syndrome 12 | 1 | Dec 15, 2021 |
| Noonan syndrome 4 | 227 | Dec 8, 2022 |
| Noonan syndrome 8 | 78 | Oct 18, 2023 |
| Noonan syndrome 9 | 185 | Dec 8, 2022 |
| Noonan syndrome-like disorder with loose anagen hair 1 | 1 | Jan 10, 2022 |
| Noonan syndrome-like disorder with loose anagen hair 2 | 1 | Dec 8, 2021 |
| Norman-Roberts syndrome | 11 | Dec 15, 2021 |
| Norum disease | 1 | Oct 18, 2021 |
| Nystagmus 1, congenital, X-linked | 4 | Sep 21, 2021 |
| Nystagmus 6, congenital, X-linked | 1 | Sep 21, 2021 |
| Obesity, hyperphagia, and developmental delay | 2 | Dec 4, 2021 |
| Occipital pachygyria and polymicrogyria | 19 | Oct 18, 2021 |
| Occult macular dystrophy | 20 | Dec 15, 2021 |
| Ocular albinism, type I | 1 | Sep 21, 2021 |
| Ocular cystinosis | 13 | Aug 30, 2021 |
| Oculoauricular syndrome | 1 | Sep 21, 2021 |
| Oculocerebrodental syndrome | 6 | Dec 4, 2021 |
| Oculocerebrofacial syndrome, Kaufman type | 1 | May 15, 2022 |
| Oculocutaneous albinism type 1 | 1 | Aug 9, 2021 |
| Oculocutaneous albinism type 3 | 2 | May 15, 2022 |
| Oculocutaneous albinism type 4 | 2 | Jan 12, 2022 |
| Oculocutaneous albinism type 7 | 3 | Aug 10, 2021 |
| Oculofaciocardiodental syndrome | 4 | Aug 9, 2021 |
| Oculomaxillofacial dysostosis | 3 | Jan 12, 2022 |
| Oculootoradial syndrome | 4 | Dec 15, 2021 |
| Oculotrichoanal syndrome | 13 | Sep 21, 2021 |
| Odonto-onycho-dermal dysplasia | 3 | Sep 1, 2021 |
| Odontochondrodysplasia 1 | 3 | Feb 21, 2022 |
| Ogden syndrome | 1 | Nov 17, 2021 |
| Oguchi disease-1 | 3 | Dec 15, 2021 |
| Okur-Chung neurodevelopmental syndrome | 1 | Aug 2, 2021 |
| Oligodontia-cancer predisposition syndrome | 6 | Aug 9, 2021 |
| Olmsted syndrome 1 | 9 | Feb 21, 2022 |
| Oocyte maturation defect 2 | 12 | Jul 31, 2021 |
| Oocyte maturation defect 4 | 1 | Dec 4, 2021 |
| Oocyte maturation defect 7 | 1 | Dec 4, 2021 |
| Oocyte maturation defect 9 | 2 | Feb 21, 2022 |
| Opsismodysplasia | 2 | Oct 18, 2021 |
| Optic atrophy 10 with or without ataxia, intellectual disability, and seizures | 2 | Dec 15, 2021 |
| Optic atrophy 11 | 6 | May 15, 2022 |
| Optic atrophy 12 | 5 | Aug 4, 2021 |
| Optic atrophy 3 | 4 | Jun 20, 2021 |
| Optic atrophy 5 | 6 | Sep 11, 2021 |
| Optic atrophy 9 | 7 | Aug 4, 2021 |
| Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | 4 | Dec 4, 2021 |
| Ornithine aminotransferase deficiency | 7 | Aug 30, 2021 |
| Ornithine carbamoyltransferase deficiency | 33 | Dec 15, 2021 |
| Orofacial-digital syndrome IV | 2 | Jan 25, 2022 |
| Orofaciodigital syndrome 16 | 2 | Feb 21, 2022 |
| Orofaciodigital syndrome 17 | 2 | Oct 18, 2021 |
| Orofaciodigital syndrome 18 | 1 | Sep 21, 2021 |
| Orofaciodigital syndrome I | 2 | Dec 4, 2021 |
| Orofaciodigital syndrome V | 2 | Sep 11, 2021 |
| Orofaciodigital syndrome XV | 9 | Oct 18, 2021 |
| Orofaciodigital syndrome type 14 | 2 | Aug 10, 2021 |
| Orofaciodigital syndrome type 6 | 1 | Aug 10, 2021 |
| Oroticaciduria | 3 | May 15, 2022 |
| Orthostatic hypotension 1 | 4 | Sep 11, 2021 |
| Osteochondritis dissecans | 21 | Aug 4, 2021 |
| Osteogenesis imperfecta type 10 | 6 | Jan 10, 2022 |
| Osteogenesis imperfecta type 12 | 2 | Jan 12, 2022 |
| Osteogenesis imperfecta type 13 | 3 | Aug 9, 2021 |
| Osteogenesis imperfecta type 16 | 2 | Sep 11, 2021 |
| Osteogenesis imperfecta type 17 | 3 | Jan 12, 2022 |
| Osteogenesis imperfecta type 5 | 1 | Aug 2, 2021 |
| Osteogenesis imperfecta type 7 | 3 | Sep 11, 2021 |
| Osteogenesis imperfecta type 8 | 85 | Dec 17, 2023 |
| Osteogenesis imperfecta type 9 | 1 | Dec 8, 2021 |
| Osteogenesis imperfecta type I | 9 | Sep 1, 2021 |
| Osteogenesis imperfecta type III | 13 | Sep 1, 2021 |
| Osteogenesis imperfecta with normal sclerae, dominant form | 13 | Sep 1, 2021 |
| Osteogenesis imperfecta, perinatal lethal | 13 | Sep 1, 2021 |
| Osteopetrosis with renal tubular acidosis | 2 | Aug 10, 2021 |
| Otofaciocervical syndrome 1 | 5 | Sep 21, 2021 |
| Otospondylomegaepiphyseal dysplasia, autosomal dominant | 15 | Sep 1, 2021 |
| Otospondylomegaepiphyseal dysplasia, autosomal recessive | 15 | Sep 1, 2021 |
| Ovarian dysgenesis 1 | 2 | Sep 21, 2021 |
| Ovarian dysgenesis 2 | 1 | Aug 9, 2021 |
| Ovarian dysgenesis 3 | 1 | Dec 8, 2021 |
| Ovarian hyperstimulation syndrome | 2 | Sep 21, 2021 |
| PCWH syndrome | 1 | Jan 12, 2022 |
| PEHO-like syndrome | 5 | Aug 10, 2021 |
| PGM1-congenital disorder of glycosylation | 4 | Dec 4, 2021 |
| PHARC syndrome | 7 | Aug 4, 2021 |
| PHGDH deficiency | 56 | Oct 18, 2023 |
| PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 9 | Dec 4, 2021 |
| PLIN1-related familial partial lipodystrophy | 4 | Dec 8, 2021 |
| PMM2-congenital disorder of glycosylation | 7 | Aug 30, 2021 |
| PSAT deficiency | 4 | Dec 8, 2021 |
| PULMONARY ALVEOLAR MICROLITHIASIS | 4 | Jan 12, 2022 |
| Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures | 6 | May 15, 2022 |
| Pachyonychia congenita 1 | 2 | Oct 18, 2021 |
| Pachyonychia congenita 3 | 5 | Oct 18, 2021 |
| Pachyonychia congenita 4 | 3 | Oct 18, 2021 |
| Paganini-Miozzo syndrome | 1 | Sep 21, 2021 |
| Paget disease of bone 3 | 3 | Jan 12, 2022 |
| Pallister-Hall syndrome | 2 | Sep 21, 2021 |
| Palmoplantar keratoderma i, striate, focal, or diffuse | 3 | Sep 11, 2021 |
| Palmoplantar keratoderma, epidermolytic | 4 | Oct 18, 2021 |
| Palmoplantar keratoderma, nonepidermolytic, focal 1 | 2 | Oct 18, 2021 |
| Palmoplantar keratoderma, nonepidermolytic, focal or diffuse | 15 | Oct 18, 2021 |
| Palmoplantar keratoderma, punctate type 1A | 5 | May 15, 2022 |
| Palmoplantar keratoderma-esophageal carcinoma syndrome | 4 | Dec 15, 2021 |
| Pancreatic agenesis 2 | 2 | Dec 15, 2021 |
| Pancreatic triacylglycerol lipase deficiency | 1 | Dec 8, 2021 |
| Pancytopenia due to IKZF1 mutations | 2 | Oct 12, 2021 |
| Pancytopenia-developmental delay syndrome | 2 | Sep 11, 2021 |
| Panhypopituitarism, X-linked | 1 | Jan 12, 2022 |
| Paragangliomas 1 | 4 | Jan 10, 2022 |
| Paragangliomas 2 | 1 | Jan 10, 2022 |
| Paragangliomas 4 | 2 | Jan 10, 2022 |
| Parenti-mignot neurodevelopmental syndrome | 6 | Oct 18, 2023 |
| Parietal foramina 1 | 1 | Nov 10, 2021 |
| Parietal foramina 2 | 8 | Aug 4, 2021 |
| Parkinson disease 5, autosomal dominant, susceptibility to | 1 | May 15, 2022 |
| Paroxysmal extreme pain disorder | 11 | Jan 10, 2022 |
| Paroxysmal nocturnal hemoglobinuria 2 | 4 | Dec 4, 2021 |
| Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | 1 | Sep 21, 2021 |
| Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome | 1 | Aug 10, 2021 |
| Patterned macular dystrophy 1 | 5 | Dec 8, 2021 |
| Peeling skin syndrome 1 | 1 | Aug 23, 2021 |
| Peeling skin syndrome 5 | 4 | Jan 10, 2022 |
| Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome | 3 | Aug 10, 2021 |
| Pelger-Huët anomaly | 3 | Oct 18, 2021 |
| Pelizaeus-Merzbacher disease | 2 | Dec 8, 2021 |
| Pelviscapular dysplasia | 17 | Oct 18, 2023 |
| Pendred syndrome | 138 | Nov 24, 2021 |
| Periodic fever-infantile enterocolitis-autoinflammatory syndrome | 2 | Nov 24, 2021 |
| Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | 15 | Nov 10, 2021 |
| Periventricular heterotopia with microcephaly, autosomal recessive | 5 | Aug 9, 2021 |
| Periventricular nodular heterotopia 6 | 1 | May 18, 2021 |
| Perlman syndrome | 1 | Sep 11, 2021 |
| Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome | 2 | Dec 15, 2021 |
| Peroxisome biogenesis disorder 10A (Zellweger) | 2 | Dec 4, 2021 |
| Peroxisome biogenesis disorder 10B | 2 | Dec 4, 2021 |
| Peroxisome biogenesis disorder 12A (Zellweger) | 1 | Dec 4, 2021 |
| Peroxisome biogenesis disorder 13A (Zellweger) | 3 | Dec 4, 2021 |
| Peroxisome biogenesis disorder 1A (Zellweger) | 25 | Dec 4, 2021 |
| Peroxisome biogenesis disorder 1B | 13 | Dec 4, 2021 |
| Peroxisome biogenesis disorder 2A (Zellweger) | 2 | Dec 4, 2021 |
| Peroxisome biogenesis disorder 2B | 2 | Dec 4, 2021 |
| Peroxisome biogenesis disorder 4A (Zellweger) | 11 | Aug 20, 2021 |
| Peroxisome biogenesis disorder 4B | 11 | Aug 20, 2021 |
| Peroxisome biogenesis disorder 5A (Zellweger) | 9 | Aug 20, 2021 |
| Peroxisome biogenesis disorder 5B | 6 | Aug 20, 2021 |
| Peroxisome biogenesis disorder 6A (Zellweger) | 7 | Aug 20, 2021 |
| Peroxisome biogenesis disorder 6B | 5 | Aug 20, 2021 |
| Peroxisome biogenesis disorder 8A (Zellweger) | 3 | Dec 4, 2021 |
| Peroxisome biogenesis disorder 8B | 3 | Dec 4, 2021 |
| Peroxisome biogenesis disorder 9B | 6 | Dec 4, 2021 |
| Perrault syndrome 1 | 13 | Aug 15, 2021 |
| Perrault syndrome 2 | 1 | Sep 21, 2021 |
| Perrault syndrome 3 | 2 | Sep 1, 2021 |
| Perrault syndrome 4 | 6 | Oct 18, 2021 |
| Perrault syndrome 6 | 1 | Sep 11, 2021 |
| Peters plus syndrome | 14 | Aug 9, 2021 |
| Peutz-Jeghers syndrome | 505 | Dec 4, 2023 |
| Phelan-McDermid syndrome | 2 | Jan 10, 2022 |
| Phenylketonuria | 27 | Dec 4, 2021 |
| Pheochromocytoma | 15 | Jan 10, 2022 |
| Phosphate transport defect | 10 | Aug 23, 2021 |
| Phosphoenolpyruvate carboxykinase deficiency, cytosolic | 7 | Dec 4, 2021 |
| Phosphoribosylpyrophosphate synthetase superactivity | 1 | Dec 8, 2021 |
| Phytanic acid storage disease | 4 | Dec 4, 2021 |
| Pick disease | 1 | Dec 8, 2021 |
| Pierpont syndrome | 1 | Jan 25, 2022 |
| Pierson syndrome | 1 | Oct 18, 2021 |
| Pigmentary pallidal degeneration | 1 | Dec 4, 2021 |
| Pigmentary retinal dystrophy | 11 | Dec 15, 2021 |
| Pigmented nodular adrenocortical disease, primary, 2 | 10 | Dec 4, 2021 |
| Pigmented paravenous retinochoroidal atrophy | 144 | Dec 17, 2023 |
| Pili torti-deafness syndrome | 5 | Aug 30, 2021 |
| Pili torti-developmental delay-neurological abnormalities syndrome | 3 | Sep 21, 2021 |
| Pitt-Hopkins syndrome | 3 | Jan 25, 2022 |
| Pituitary adenoma 5, multiple types | 7 | Aug 10, 2021 |
| Pituitary hormone deficiency, combined, 2 | 4 | Dec 8, 2021 |
| Pityriasis rubra pilaris | 12 | Aug 10, 2021 |
| Plasminogen deficiency, type I | 7 | Dec 8, 2021 |
| Platelet-type bleeding disorder 11 | 12 | Sep 21, 2021 |
| Platelet-type bleeding disorder 18 | 5 | Dec 15, 2021 |
| Platelet-type bleeding disorder 20 | 7 | Jan 12, 2022 |
| Platelet-type bleeding disorder 8 | 1 | Dec 4, 2021 |
| Poikiloderma with neutropenia | 1 | May 15, 2022 |
| Polycystic kidney disease 2 | 1 | Dec 4, 2021 |
| Polycystic kidney disease 4 | 67 | Dec 4, 2021 |
| Polycystic kidney disease 5 | 4 | Sep 11, 2021 |
| Polycystic kidney disease, adult type | 3 | Aug 2, 2021 |
| Polycystic liver disease 1 | 2 | Dec 8, 2021 |
| Polycystic liver disease 2 | 10 | Jan 10, 2022 |
| Polydactyly of a biphalangeal thumb | 3 | Sep 21, 2021 |
| Polydactyly, postaxial, type A1 | 2 | Sep 21, 2021 |
| Polydactyly, postaxial, type A6 | 1 | Aug 2, 2021 |
| Polydactyly, postaxial, type A8 | 3 | Sep 21, 2021 |
| Polydactyly, postaxial, type a10 | 2 | Oct 18, 2021 |
| Polydactyly, postaxial, type a7 | 17 | Oct 18, 2021 |
| Polyendocrine-polyneuropathy syndrome | 12 | Sep 11, 2021 |
| Polyglandular autoimmune syndrome, type 1 | 11 | Aug 11, 2021 |
| Polyglucosan body myopathy type 1 | 5 | Aug 2, 2021 |
| Polyhydramnios, megalencephaly, and symptomatic epilepsy | 1 | Jan 25, 2022 |
| Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | 8 | Sep 1, 2021 |
| Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | 20 | Dec 4, 2021 |
| Polysyndactyly 4 | 2 | Sep 21, 2021 |
| Pontocerebellar hypoplasia type 1A | 3 | Jul 20, 2021 |
| Pontocerebellar hypoplasia type 1B | 1 | Sep 21, 2021 |
| Pontocerebellar hypoplasia type 2A | 7 | Mar 2, 2022 |
| Pontocerebellar hypoplasia type 2D | 3 | Aug 23, 2021 |
| Pontocerebellar hypoplasia type 2E | 16 | May 15, 2022 |
| Pontocerebellar hypoplasia type 3 | 7 | Dec 4, 2021 |
| Pontocerebellar hypoplasia type 4 | 7 | Mar 2, 2022 |
| Pontocerebellar hypoplasia type 5 | 7 | Mar 2, 2022 |
| Pontocerebellar hypoplasia type 6 | 14 | Aug 23, 2021 |
| Pontocerebellar hypoplasia type 9 | 44 | Oct 18, 2023 |
| Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal | 7 | Oct 18, 2023 |
| Pontocerebellar hypoplasia, type 11 | 2 | Jan 25, 2022 |
| Pontocerebellar hypoplasia, type 12 | 2 | Sep 1, 2021 |
| Pontocerebellar hypoplasia, type 1C | 1 | Sep 21, 2021 |
| Porencephaly 2 | 17 | Sep 1, 2021 |
| Porokeratosis 7, multiple types | 1 | Nov 10, 2021 |
| Portal hypertension, noncirrhotic | 1 | Sep 11, 2021 |
| Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | 9 | Sep 21, 2021 |
| Posterior column ataxia-retinitis pigmentosa syndrome | 3 | Sep 21, 2021 |
| Posterior polymorphous corneal dystrophy 1 | 2 | Dec 4, 2021 |
| Posterior polymorphous corneal dystrophy 2 | 2 | Sep 11, 2021 |
| Predisposition to invasive fungal disease due to CARD9 deficiency | 2 | Aug 10, 2021 |
| Premature ovarian failure 15 | 6 | Sep 21, 2021 |
| Premature ovarian failure 20 | 5 | Oct 18, 2023 |
| Premature ovarian failure 2B | 2 | Dec 8, 2021 |
| Premature ovarian failure 5 | 8 | Nov 24, 2021 |
| Premature ovarian failure 6 | 5 | Sep 21, 2021 |
| Premature ovarian failure 8 | 6 | Jan 12, 2022 |
| Primary ciliary dyskinesia 11 | 1 | Dec 15, 2021 |
| Primary ciliary dyskinesia 13 | 5 | Sep 11, 2021 |
| Primary ciliary dyskinesia 15 | 12 | Aug 10, 2021 |
| Primary ciliary dyskinesia 18 | 15 | Aug 2, 2021 |
| Primary ciliary dyskinesia 19 | 2 | Oct 18, 2021 |
| Primary ciliary dyskinesia 2 | 2 | Sep 11, 2021 |
| Primary ciliary dyskinesia 21 | 4 | Sep 11, 2021 |
| Primary ciliary dyskinesia 23 | 5 | Aug 9, 2021 |
| Primary ciliary dyskinesia 24 | 4 | Dec 15, 2021 |
| Primary ciliary dyskinesia 25 | 2 | Sep 11, 2021 |
| Primary ciliary dyskinesia 27 | 4 | Aug 10, 2021 |
| Primary ciliary dyskinesia 28 | 4 | Jan 12, 2022 |
| Primary ciliary dyskinesia 3 | 65 | Sep 11, 2021 |
| Primary ciliary dyskinesia 33 | 3 | Sep 21, 2021 |
| Primary ciliary dyskinesia 34 | 1 | Sep 11, 2021 |
| Primary ciliary dyskinesia 5 | 4 | Sep 21, 2021 |
| Primary ciliary dyskinesia 6 | 6 | Nov 24, 2021 |
| Primary ciliary dyskinesia 7 | 28 | Sep 11, 2021 |
| Primary ciliary dyskinesia 9 | 17 | Aug 15, 2021 |
| Primary coenzyme Q10 deficiency 8 | 3 | Sep 11, 2021 |
| Primary erythromelalgia | 11 | Jan 10, 2022 |
| Primary failure of tooth eruption | 2 | Dec 15, 2021 |
| Primary hyperoxaluria type 3 | 5 | Sep 21, 2021 |
| Primary hyperoxaluria, type I | 15 | Jul 28, 2021 |
| Primary hyperoxaluria, type II | 11 | Aug 30, 2021 |
| Primary hypomagnesemia | 3 | Aug 23, 2021 |
| Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | 1 | Nov 10, 2021 |
| Primary intraosseous venous malformation | 1 | Sep 11, 2021 |
| Primary open angle glaucoma | 2 | Dec 4, 2021 |
| Progeroid features-hepatocellular carcinoma predisposition syndrome | 2 | Jan 12, 2022 |
| Progressive bulbar palsy of childhood | 8 | Aug 2, 2021 |
| Progressive demyelinating neuropathy with bilateral striatal necrosis | 4 | Jan 10, 2022 |
| Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | 9 | Oct 18, 2023 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 5 | Dec 8, 2021 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | 3 | Dec 8, 2021 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 5 | Dec 8, 2021 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | 2 | Dec 15, 2021 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | 3 | Feb 21, 2022 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | 1 | Sep 11, 2021 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 | 6 | Feb 21, 2022 |
| Progressive familial heart block type IB | 3 | Feb 21, 2022 |
| Progressive familial intrahepatic cholestasis type 1 | 10 | Aug 9, 2021 |
| Progressive familial intrahepatic cholestasis type 2 | 16 | Aug 11, 2021 |
| Progressive familial intrahepatic cholestasis type 3 | 6 | Aug 4, 2021 |
| Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome | 1 | Sep 11, 2021 |
| Progressive myoclonic epilepsy type 3 | 2 | Oct 18, 2021 |
| Progressive myoclonic epilepsy type 6 | 3 | Sep 21, 2021 |
| Progressive myositis ossificans | 14 | Jun 7, 2022 |
| Progressive osseous heteroplasia | 1 | Sep 21, 2021 |
| Progressive retinal dystrophy due to retinol transport defect | 1 | Dec 15, 2021 |
| Progressive scapulohumeroperoneal distal myopathy | 1 | Aug 4, 2021 |
| Progressive sclerosing poliodystrophy | 5 | Dec 8, 2021 |
| Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | 1 | Dec 15, 2021 |
| Proline dehydrogenase deficiency | 10 | Dec 8, 2021 |
| Propionic acidemia | 20 | Dec 4, 2021 |
| Proteasome-associated autoinflammatory syndrome 1 | 1 | Dec 8, 2021 |
| Proteasome-associated autoinflammatory syndrome 3 | 4 | Dec 8, 2021 |
| Protoporphyria, erythropoietic, 1 | 4 | Sep 21, 2021 |
| Protoporphyria, erythropoietic, 2 | 1 | Sep 1, 2021 |
| Proximal myopathy with extrapyramidal signs | 1 | Nov 10, 2021 |
| Pseudo-Hurler polydystrophy | 19 | Sep 21, 2021 |
| Pseudohypoaldosteronism type 2D | 3 | Oct 18, 2021 |
| Pseudohypoaldosteronism, type IB1, autosomal recessive | 10 | Jan 10, 2022 |
| Pseudohypoparathyroidism type 1B | 2 | Jan 25, 2022 |
| Pseudohypoparathyroidism type 1C | 1 | Sep 21, 2021 |
| Pseudohypoparathyroidism type I A | 1 | Sep 21, 2021 |
| Pseudopseudohypoparathyroidism | 1 | Sep 21, 2021 |
| Pseudoxanthoma elasticum, forme fruste | 57 | Jun 7, 2022 |
| Psoriasis 2 | 12 | Aug 10, 2021 |
| Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome | 6 | Jan 12, 2022 |
| Psychomotor retardation, epilepsy, and craniofacial dysmorphism | 2 | Jan 12, 2022 |
| Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | 1 | Dec 4, 2021 |
| Ptosis, hereditary congenital, 1 | 2 | May 15, 2022 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | 2 | Feb 21, 2022 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | 21 | Jul 28, 2021 |
| Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 | 2 | May 15, 2022 |
| Pulmonary hypertension, primary, 3 | 1 | Aug 10, 2021 |
| Pulmonary hypertension, primary, 4 | 1 | Oct 18, 2021 |
| Purine-nucleoside phosphorylase deficiency | 4 | Dec 8, 2021 |
| Pyknodysostosis | 30 | Oct 18, 2023 |
| Pyle metaphyseal dysplasia | 4 | Jan 10, 2022 |
| Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | 2 | Dec 8, 2021 |
| Pyridoxal phosphate-responsive seizures | 2 | Dec 8, 2021 |
| Pyridoxine-dependent epilepsy | 151 | Oct 18, 2023 |
| Pyropoikilocytosis, hereditary | 22 | Jan 12, 2022 |
| Pyruvate carboxylase deficiency | 1 | Dec 4, 2021 |
| Pyruvate dehydrogenase E1-beta deficiency | 7 | Dec 4, 2021 |
| Pyruvate dehydrogenase E2 deficiency | 5 | Sep 11, 2021 |
| Pyruvate dehydrogenase E3 deficiency | 9 | Aug 15, 2021 |
| Pyruvate dehydrogenase phosphatase deficiency | 1 | Dec 4, 2021 |
| Quebec platelet disorder | 1 | Dec 4, 2021 |
| RAB23-related Carpenter syndrome | 4 | Aug 30, 2021 |
| RCBTB1-related retinopathy | 5 | Dec 15, 2021 |
| RFT1-congenital disorder of glycosylation | 2 | Dec 15, 2021 |
| RIDDLE syndrome | 3 | Dec 15, 2021 |
| RIN2 syndrome | 3 | Dec 15, 2021 |
| Rabson-Mendenhall syndrome | 5 | Oct 18, 2021 |
| Radial aplasia-thrombocytopenia syndrome | 1 | May 19, 2021 |
| Radio-Tartaglia syndrome | 3 | Oct 18, 2023 |
| Rafiq syndrome | 3 | Nov 10, 2021 |
| Rapadilino syndrome | 12 | Dec 15, 2021 |
| Recessive dystrophic epidermolysis bullosa | 1 | Jun 1, 2021 |
| Renal carnitine transport defect | 147 | Jan 10, 2022 |
| Renal coloboma syndrome | 4 | Dec 4, 2021 |
| Renal hypodysplasia/aplasia 1 | 3 | Oct 18, 2021 |
| Renal hypodysplasia/aplasia 2 | 1 | Sep 21, 2021 |
| Renal hypodysplasia/aplasia 3 | 2 | Sep 21, 2021 |
| Renal hypomagnesemia 6 | 2 | Sep 1, 2021 |
| Renal tubular acidosis with progressive nerve deafness | 14 | Aug 30, 2021 |
| Renal tubular dysgenesis | 14 | Dec 15, 2021 |
| Renal-hepatic-pancreatic dysplasia 2 | 1 | Nov 24, 2021 |
| Renpenning syndrome | 1 | Dec 8, 2021 |
| Respiratory papillomatosis, juvenile recurrent, congenital | 3 | Nov 24, 2021 |
| Retinal cone dystrophy 4 | 17 | Aug 2, 2021 |
| Retinal dystrophy and obesity | 6 | May 15, 2022 |
| Retinal dystrophy with leukodystrophy | 3 | Aug 4, 2021 |
| Retinal macular dystrophy type 2 | 5 | Dec 8, 2021 |
| Retinitis pigmentosa 1 | 6 | Dec 15, 2021 |
| Retinitis pigmentosa 12 | 185 | Dec 17, 2023 |
| Retinitis pigmentosa 14 | 5 | May 15, 2022 |
| Retinitis pigmentosa 19 | 17 | Aug 4, 2021 |
| Retinitis pigmentosa 20 | 4 | Dec 15, 2021 |
| Retinitis pigmentosa 23 | 2 | Dec 4, 2021 |
| Retinitis pigmentosa 25 | 63 | Aug 30, 2021 |
| Retinitis pigmentosa 26 | 10 | Aug 23, 2021 |
| Retinitis pigmentosa 28 | 9 | Jul 28, 2021 |
| Retinitis pigmentosa 3 | 3 | Dec 15, 2021 |
| Retinitis pigmentosa 31 | 1 | Feb 21, 2022 |
| Retinitis pigmentosa 33 | 3 | Jan 12, 2022 |
| Retinitis pigmentosa 35 | 38 | Oct 18, 2023 |
| Retinitis pigmentosa 36 | 1 | Dec 8, 2021 |
| Retinitis pigmentosa 37 | 2 | Dec 4, 2021 |
| Retinitis pigmentosa 38 | 13 | Nov 10, 2021 |
| Retinitis pigmentosa 39 | 1008 | Dec 17, 2023 |
| Retinitis pigmentosa 4 | 3 | Dec 15, 2021 |
| Retinitis pigmentosa 40 | 2 | Aug 2, 2021 |
| Retinitis pigmentosa 41 | 5 | Dec 8, 2021 |
| Retinitis pigmentosa 43 | 2 | Dec 4, 2021 |
| Retinitis pigmentosa 44 | 2 | Dec 15, 2021 |
| Retinitis pigmentosa 45 | 12 | Sep 1, 2021 |
| Retinitis pigmentosa 46 | 1 | Sep 21, 2021 |
| Retinitis pigmentosa 48 | 2 | Sep 21, 2021 |
| Retinitis pigmentosa 49 | 3 | Sep 1, 2021 |
| Retinitis pigmentosa 50 | 5 | Aug 9, 2021 |
| Retinitis pigmentosa 54 | 7 | Aug 10, 2021 |
| Retinitis pigmentosa 56 | 3 | Oct 18, 2021 |
| Retinitis pigmentosa 57 | 1 | Dec 4, 2021 |
| Retinitis pigmentosa 59 | 1 | Jul 17, 2021 |
| Retinitis pigmentosa 62 | 1 | Nov 10, 2021 |
| Retinitis pigmentosa 66 | 2 | Dec 15, 2021 |
| Retinitis pigmentosa 67 | 1 | Nov 24, 2021 |
| Retinitis pigmentosa 68 | 2 | Jan 12, 2022 |
| Retinitis pigmentosa 7 | 5 | Dec 8, 2021 |
| Retinitis pigmentosa 71 | 4 | Sep 21, 2021 |
| Retinitis pigmentosa 73 | 4 | Aug 15, 2021 |
| Retinitis pigmentosa 74 | 11 | Aug 11, 2021 |
| Retinitis pigmentosa 76 | 21 | Dec 8, 2021 |
| Retinitis pigmentosa 77 | 7 | Aug 2, 2021 |
| Retinitis pigmentosa 79 | 6 | Sep 21, 2021 |
| Retinitis pigmentosa 80 | 12 | Aug 2, 2021 |
| Retinitis pigmentosa 83 | 1 | Aug 9, 2021 |
| Retinitis pigmentosa 84 | 7 | Sep 11, 2021 |
| Retinitis pigmentosa 86 | 11 | Oct 18, 2021 |
| Retinitis pigmentosa 87 with choroidal involvement | 4 | Jul 14, 2021 |
| Retinitis pigmentosa 88 | 20 | Dec 15, 2021 |
| Retinitis pigmentosa 9 | 3 | Dec 15, 2021 |
| Retinitis pigmentosa and erythrocytic microcytosis | 4 | Feb 21, 2022 |
| Retinoblastoma | 3 | Dec 15, 2021 |
| Reynolds syndrome | 3 | Oct 18, 2021 |
| Rhizomelic chondrodysplasia punctata type 1 | 6 | Dec 4, 2021 |
| Rhizomelic chondrodysplasia punctata type 2 | 2 | Sep 21, 2021 |
| Rhizomelic chondrodysplasia punctata type 3 | 5 | Aug 11, 2021 |
| Rhizomelic chondrodysplasia punctata type 5 | 2 | Dec 4, 2021 |
| Rhizomelic limb shortening with dysmorphic features | 3 | Dec 4, 2021 |
| Ritscher-Schinzel syndrome 2 | 3 | Aug 10, 2021 |
| Roberts-SC phocomelia syndrome | 3 | Jul 31, 2021 |
| Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | 1 | Jan 12, 2022 |
| Rothmund-Thomson syndrome type 1 | 7 | Aug 9, 2021 |
| Rothmund-Thomson syndrome type 2 | 12 | Dec 15, 2021 |
| Rotor syndrome | 9 | Jan 12, 2022 |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 5 | Sep 11, 2021 |
| SHORT syndrome | 3 | Dec 4, 2021 |
| SIN3A-related intellectual disability syndrome due to a point mutation | 2 | Jan 10, 2022 |
| SLC35A1-congenital disorder of glycosylation | 1 | Jan 12, 2022 |
| SLC39A8-CDG | 2 | Jan 12, 2022 |
| STAT3-related early-onset multisystem autoimmune disease | 2 | Jan 12, 2022 |
| STING-associated vasculopathy with onset in infancy | 2 | Feb 21, 2022 |
| STT3A-congenital disorder of glycosylation | 3 | Jan 25, 2022 |
| Sacral defect with anterior meningocele | 1 | May 15, 2022 |
| Saldino-Mainzer syndrome | 12 | Aug 2, 2021 |
| Salla disease | 44 | Nov 24, 2021 |
| Sandestig-stefanova syndrome | 6 | Dec 4, 2021 |
| Sandhoff disease | 10 | Aug 30, 2021 |
| SchC6pf-Schulz-Passarge syndrome | 1 | Aug 23, 2021 |
| Schimke immuno-osseous dysplasia | 11 | Jan 12, 2022 |
| Schinzel phocomelia syndrome | 1 | May 15, 2022 |
| Schinzel-Giedion syndrome | 1 | Jan 10, 2022 |
| Schneckenbecken dysplasia | 2 | Jan 12, 2022 |
| Schuurs-Hoeijmakers syndrome | 1 | Dec 4, 2021 |
| Schwartz-Jampel syndrome | 46 | Sep 21, 2021 |
| Schwartz-Jampel syndrome type 1 | 5 | Oct 18, 2023 |
| Sclerosteosis 2 | 8 | Oct 18, 2021 |
| Seckel syndrome 1 | 350 | Feb 9, 2023 |
| Seckel syndrome 2 | 3 | Dec 15, 2021 |
| Seckel syndrome 4 | 4 | Aug 23, 2021 |
| Seckel syndrome 5 | 1 | Aug 23, 2021 |
| Seckel syndrome 6 | 1 | Aug 23, 2021 |
| Seckel syndrome 7 | 11 | Nov 24, 2021 |
| Seckel syndrome 8 | 1 | Sep 11, 2021 |
| Seckel syndrome 9 | 2 | Feb 21, 2022 |
| Seizures, benign familial infantile, 2 | 1 | Dec 8, 2021 |
| Seizures, benign familial infantile, 3 | 6 | Jan 10, 2022 |
| Seizures, benign familial infantile, 5 | 8 | Jan 10, 2022 |
| Seizures, benign familial neonatal, 1 | 3 | Oct 18, 2021 |
| Seizures, benign familial neonatal, 2 | 1 | Oct 18, 2021 |
| Seizures, early-onset, with neurodegeneration and brain calcifications | 1 | Dec 4, 2021 |
| Seizures-scoliosis-macrocephaly syndrome | 1 | Sep 21, 2021 |
| Senior-Loken syndrome 1 | 1 | Dec 4, 2021 |
| Senior-Loken syndrome 5 | 2 | Oct 18, 2021 |
| Senior-Loken syndrome 6 | 16 | Aug 23, 2021 |
| Senior-Loken syndrome 7 | 5 | Jan 10, 2022 |
| Senior-Loken syndrome 8 | 21 | May 15, 2022 |
| Senior-Loken syndrome 9 | 1 | Feb 21, 2022 |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 5 | Dec 8, 2021 |
| Sessile serrated polyposis cancer syndrome | 1 | Dec 15, 2021 |
| Severe X-linked mitochondrial encephalomyopathy | 1 | Aug 4, 2021 |
| Severe X-linked myotubular myopathy | 1 | Jul 31, 2021 |
| Severe combined immunodeficiency due to CARD11 deficiency | 7 | Aug 10, 2021 |
| Severe combined immunodeficiency due to CARMIL2 deficiency | 3 | Dec 15, 2021 |
| Severe combined immunodeficiency due to CORO1A deficiency | 1 | Sep 11, 2021 |
| Severe combined immunodeficiency due to CTPS1 deficiency | 3 | Oct 18, 2023 |
| Severe combined immunodeficiency due to DCLRE1C deficiency | 12 | Sep 11, 2021 |
| Severe combined immunodeficiency due to DNA-PKcs deficiency | 1 | Dec 8, 2021 |
| Severe combined immunodeficiency due to LAT deficiency | 2 | Oct 18, 2021 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 74 | Nov 24, 2021 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | 7 | Dec 15, 2021 |
| Severe dermatitis-multiple allergies-metabolic wasting syndrome | 3 | Sep 11, 2021 |
| Severe early-childhood-onset retinal dystrophy | 20 | Mar 2, 2022 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 33 | Jun 25, 2022 |
| Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | 3 | Dec 15, 2021 |
| Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome | 4 | Aug 10, 2021 |
| Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome | 1 | Sep 21, 2021 |
| Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | 38 | Oct 18, 2023 |
| Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | 3 | Mar 2, 2022 |
| Severe neurodegenerative syndrome with lipodystrophy | 4 | Aug 9, 2021 |
| Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | 35 | Jun 7, 2022 |
| Short stature and microcephaly with genital anomalies | 3 | Aug 23, 2021 |
| Short stature due to growth hormone secretagogue receptor deficiency | 2 | Sep 21, 2021 |
| Short stature due to partial GHR deficiency | 2 | Sep 21, 2021 |
| Short stature due to primary acid-labile subunit deficiency | 1 | Aug 2, 2021 |
| Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis | 1 | Jan 10, 2022 |
| Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | 2 | Aug 9, 2021 |
| Short stature, microcephaly, and endocrine dysfunction | 1 | May 15, 2022 |
| Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 3 | Jun 25, 2022 |
| Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome | 1 | Sep 21, 2021 |
| Short stature-brachydactyly-obesity-global developmental delay syndrome | 5 | Dec 8, 2021 |
| Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome | 14 | Nov 17, 2021 |
| Short stature-pituitary and cerebellar defects-small sella turcica syndrome | 1 | Oct 18, 2021 |
| Short-rib thoracic dysplasia 10 with or without polydactyly | 4 | Sep 21, 2021 |
| Short-rib thoracic dysplasia 11 with or without polydactyly | 4 | May 15, 2022 |
| Short-rib thoracic dysplasia 13 with or without polydactyly | 2 | Aug 23, 2021 |
| Short-rib thoracic dysplasia 14 with polydactyly | 6 | Oct 18, 2021 |
| Short-rib thoracic dysplasia 15 with polydactyly | 1 | Sep 11, 2021 |
| Short-rib thoracic dysplasia 16 with or without polydactyly | 1 | Sep 21, 2021 |
| Short-rib thoracic dysplasia 17 with or without polydactyly | 1 | Jan 25, 2022 |
| Short-rib thoracic dysplasia 20 with polydactyly | 2 | Oct 18, 2021 |
| Short-rib thoracic dysplasia 21 without polydactyly | 9 | Oct 18, 2021 |
| Short-rib thoracic dysplasia 6 with or without polydactyly | 3 | Nov 24, 2021 |
| Short-rib thoracic dysplasia 7 with or without polydactyly | 6 | May 15, 2022 |
| Short-rib thoracic dysplasia 8 with or without polydactyly | 11 | May 15, 2022 |
| Shprintzen-Goldberg syndrome | 2 | Aug 2, 2021 |
| Shwachman-Diamond syndrome 1 | 1 | Dec 15, 2021 |
| Shwachman-Diamond syndrome 2 | 4 | Sep 11, 2021 |
| Sialic acid storage disease, severe infantile type | 15 | Aug 23, 2021 |
| Sialuria | 4 | Aug 30, 2021 |
| Sideroblastic anemia 2 | 3 | Jan 10, 2022 |
| Sifrim-Hitz-Weiss syndrome | 3 | Aug 23, 2021 |
| Simpson-Golabi-Behmel syndrome type 2 | 2 | Dec 4, 2021 |
| Singleton-Merten syndrome 1 | 2 | Sep 21, 2021 |
| Singleton-Merten syndrome 2 | 6 | Sep 11, 2021 |
| Sinoatrial node dysfunction and deafness | 11 | Aug 10, 2021 |
| Sitosterolemia 1 | 12 | Aug 4, 2021 |
| Sjögren-Larsson syndrome | 7 | Aug 4, 2021 |
| Skeletal dysplasia, mild, with joint laxity and advanced bone age | 2 | Sep 11, 2021 |
| Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome | 5 | Dec 4, 2021 |
| Skraban-Deardorff syndrome | 2 | May 15, 2022 |
| Smith-Lemli-Opitz syndrome | 22 | Aug 30, 2021 |
| Smith-Magenis syndrome | 4 | Dec 15, 2021 |
| Snijders Blok-Campeau syndrome | 3 | Aug 30, 2021 |
| Solitary median maxillary central incisor syndrome | 1 | Jan 10, 2022 |
| Sorsby fundus dystrophy | 1 | Feb 21, 2022 |
| Sotos syndrome | 193 | Jan 10, 2022 |
| Spastic ataxia 1 | 3 | May 15, 2022 |
| Spastic ataxia 2 | 3 | Oct 18, 2021 |
| Spastic ataxia 4 | 3 | Nov 10, 2021 |
| Spastic ataxia 5 | 5 | Aug 4, 2021 |
| Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | 1 | Nov 24, 2021 |
| Spastic paraplegia 52, autosomal recessive | 4 | Aug 9, 2021 |
| Spastic paraplegia 83, autosomal recessive | 1 | Oct 18, 2023 |
| Spastic paraplegia, intellectual disability, nystagmus, and obesity | 3 | Oct 18, 2021 |
| Spastic paraplegia, optic atropy, and neuropathy | 3 | Oct 18, 2021 |
| Spastic paraplegia-severe developmental delay-epilepsy syndrome | 6 | Sep 21, 2021 |
| Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | 1 | Jan 10, 2022 |
| Spermatogenic failure 11 | 1 | Oct 18, 2021 |
| Spermatogenic failure 18 | 3 | Sep 11, 2021 |
| Spermatogenic failure 2 | 5 | Oct 18, 2023 |
| Spermatogenic failure 24 | 5 | Aug 10, 2021 |
| Spermatogenic failure 28 | 6 | Sep 21, 2021 |
| Spermatogenic failure 31 | 1 | Dec 8, 2021 |
| Spermatogenic failure 35 | 3 | Dec 15, 2021 |
| Spermatogenic failure 36 | 1 | Dec 8, 2021 |
| Spermatogenic failure 43 | 9 | Jan 12, 2022 |
| Spermatogenic failure 61 | 6 | Jan 12, 2022 |
| Spermatogenic failure 7 | 2 | Aug 10, 2021 |
| Sphingolipid activator protein 1 deficiency | 11 | Dec 8, 2021 |
| Spinal muscular atrophy with congenital bone fractures 1 | 2 | Feb 21, 2022 |
| Spinal muscular atrophy, infantile, James type | 3 | Sep 21, 2021 |
| Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant | 1 | Aug 9, 2021 |
| Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | 21 | Aug 9, 2021 |
| Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | 8 | Aug 10, 2021 |
| Spinocerebellar ataxia 44 | 5 | Sep 21, 2021 |
| Spinocerebellar ataxia 45 | 24 | Sep 21, 2021 |
| Spinocerebellar ataxia 47 | 3 | Dec 15, 2021 |
| Spinocerebellar ataxia 48 | 1 | Aug 2, 2021 |
| Spinocerebellar ataxia type 11 | 1 | Mar 2, 2022 |
| Spinocerebellar ataxia type 13 | 1 | Oct 18, 2021 |
| Spinocerebellar ataxia type 14 | 3 | Dec 8, 2021 |
| Spinocerebellar ataxia type 15/16 | 8 | Oct 18, 2021 |
| Spinocerebellar ataxia type 26 | 3 | Sep 11, 2021 |
| Spinocerebellar ataxia type 28 | 5 | Aug 4, 2021 |
| Spinocerebellar ataxia type 29 | 8 | Oct 18, 2021 |
| Spinocerebellar ataxia type 34 | 1 | Sep 11, 2021 |
| Spinocerebellar ataxia type 35 | 8 | Feb 21, 2022 |
| Spinocerebellar ataxia type 40 | 9 | Aug 10, 2021 |
| Spinocerebellar ataxia type 41 | 1 | Feb 21, 2022 |
| Spinocerebellar ataxia type 42 | 7 | Aug 10, 2021 |
| Spinocerebellar ataxia type 5 | 4 | Jan 12, 2022 |
| Spinocerebellar ataxia type 6 | 20 | Aug 10, 2021 |
| Spinocerebellar ataxia, autosomal recessive 22 | 4 | May 15, 2022 |
| Spinocerebellar ataxia, autosomal recessive 24 | 1 | May 15, 2022 |
| Spinocerebellar ataxia, autosomal recessive 26 | 4 | May 15, 2022 |
| Spinocerebellar ataxia, autosomal recessive 28 | 2 | Feb 21, 2022 |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 219 | May 28, 2023 |
| Split hand-foot malformation 6 | 1 | May 15, 2022 |
| Split-foot malformation-mesoaxial polydactyly syndrome | 5 | Nov 10, 2021 |
| Sponastrime dysplasia | 12 | Feb 21, 2022 |
| Spondylo-megaepiphyseal-metaphyseal dysplasia | 1 | Nov 24, 2021 |
| Spondylo-ocular syndrome | 8 | May 15, 2022 |
| Spondylocostal dysostosis 1, autosomal recessive | 5 | Sep 11, 2021 |
| Spondylocostal dysostosis 2, autosomal recessive | 2 | Jun 16, 2021 |
| Spondylocostal dysostosis 5 | 1 | Jan 25, 2022 |
| Spondylocostal dysostosis 6, autosomal recessive | 2 | Dec 15, 2021 |
| Spondyloenchondrodysplasia with immune dysregulation | 3 | Aug 4, 2021 |
| Spondyloepimetaphyseal dysplasia with multiple dislocations | 2 | Oct 18, 2021 |
| Spondyloepimetaphyseal dysplasia, Bieganski type | 1 | Aug 4, 2021 |
| Spondyloepimetaphyseal dysplasia, Genevieve type | 2 | Nov 17, 2021 |
| Spondyloepimetaphyseal dysplasia, Isidor-Toutain type | 2 | Dec 15, 2021 |
| Spondyloepimetaphyseal dysplasia, Krakow type | 4 | Jan 10, 2022 |
| Spondyloepimetaphyseal dysplasia, Shohat type | 1 | Sep 11, 2021 |
| Spondyloepimetaphyseal dysplasia, aggrecan type | 54 | Jun 7, 2022 |
| Spondyloepimetaphyseal dysplasia, di rocco type | 2 | May 15, 2022 |
| Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome | 4 | Sep 11, 2021 |
| Spondyloepiphyseal dysplasia, Kimberley type | 52 | Jun 7, 2022 |
| Spondylometaphyseal dysplasia - Sutcliffe type | 18 | Sep 21, 2021 |
| Spongy degeneration of central nervous system | 32 | Dec 15, 2021 |
| Squalene synthase deficiency | 5 | Sep 21, 2021 |
| Stankiewicz-Isidor syndrome | 2 | Dec 8, 2021 |
| Stargardt disease 3 | 1 | Sep 11, 2021 |
| Stargardt disease 4 | 5 | Dec 8, 2021 |
| Steel syndrome | 44 | Aug 11, 2021 |
| Sterile multifocal osteomyelitis with periostitis and pustulosis | 1 | Oct 18, 2021 |
| Sterol carrier protein 2 deficiency | 1 | Jan 10, 2022 |
| Stickler syndrome type 2 | 16 | Sep 1, 2021 |
| Stormorken syndrome | 3 | Jan 12, 2022 |
| Striatal degeneration, autosomal dominant 2 | 2 | Dec 4, 2021 |
| Striatonigral degeneration, childhood-onset | 6 | May 15, 2022 |
| Stromme syndrome | 30 | Aug 23, 2021 |
| Structural heart defects and renal anomalies syndrome | 4 | Feb 21, 2022 |
| Stuttering, familial persistent, 1 | 18 | Jun 25, 2022 |
| Stuve-Wiedemann syndrome | 9 | Jul 31, 2021 |
| Subcutaneous panniculitis-like T-cell lymphoma | 1 | Sep 21, 2021 |
| Succinyl-CoA acetoacetate transferase deficiency | 2 | Dec 4, 2021 |
| Sucrase-isomaltase deficiency | 10 | Jan 10, 2022 |
| Sudden cardiac failure, infantile | 5 | Dec 8, 2021 |
| Sulfite oxidase deficiency | 1 | Jan 25, 2022 |
| Surfactant metabolism dysfunction, pulmonary, 1 | 4 | Jan 10, 2022 |
| Surfactant metabolism dysfunction, pulmonary, 2 | 3 | Jan 10, 2022 |
| Susceptibility to mononeuropathy of the median nerve, mild | 5 | Jan 10, 2022 |
| Symmetrical dyschromatosis of extremities | 5 | Aug 4, 2021 |
| Syndactyly type 5 | 1 | Sep 21, 2021 |
| Syndromic X-linked intellectual disability 14 | 1 | May 15, 2022 |
| Syndromic X-linked intellectual disability 94 | 4 | Sep 21, 2021 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 1 | Oct 18, 2021 |
| Syndromic X-linked intellectual disability Hedera type | 1 | Aug 9, 2021 |
| Syndromic X-linked intellectual disability Raymond type | 1 | May 15, 2022 |
| Syndromic X-linked intellectual disability Shashi type | 1 | Dec 15, 2021 |
| Syndromic X-linked intellectual disability Siderius type | 1 | Dec 4, 2021 |
| Syndromic X-linked intellectual disability Snyder type | 2 | Jan 12, 2022 |
| Synpolydactyly type 1 | 1 | Sep 21, 2021 |
| Synpolydactyly type 2 | 2 | Sep 21, 2021 |
| T-cell immunodeficiency, congenital alopecia, and nail dystrophy | 3 | Sep 21, 2021 |
| TELO2-related intellectual disability-neurodevelopmental disorder | 8 | Aug 2, 2021 |
| TFRC-related combined immunodeficiency | 8 | Feb 21, 2022 |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | 2 | Feb 21, 2022 |
| TMEM165-congenital disorder of glycosylation | 3 | Feb 21, 2022 |
| TMEM199-CDG | 1 | May 17, 2021 |
| Tall stature-intellectual disability-renal anomalies syndrome | 1 | Sep 21, 2021 |
| Tangier disease | 6 | Aug 2, 2021 |
| Tay-Sachs disease | 14 | Aug 30, 2021 |
| Tay-Sachs disease, variant AB | 3 | Sep 21, 2021 |
| Teebi hypertelorism syndrome | 3 | Jan 12, 2022 |
| Telangiectasia, hereditary hemorrhagic, type 2 | 38 | Jun 7, 2022 |
| Temple-Baraitser syndrome | 2 | Oct 18, 2021 |
| Temtamy preaxial brachydactyly syndrome | 3 | Aug 23, 2021 |
| Temtamy syndrome | 2 | Aug 10, 2021 |
| Tenorio syndrome | 1 | Dec 15, 2021 |
| Tetraamelia syndrome 2 | 2 | Dec 15, 2021 |
| Tetralogy of Fallot | 6 | May 15, 2022 |
| Thrombocythemia 1 | 1 | Feb 21, 2022 |
| Thrombocytopenia 2 | 67 | Jun 25, 2022 |
| Thrombophilia due to protein C deficiency, autosomal dominant | 3 | Dec 8, 2021 |
| Thrombophilia due to protein C deficiency, autosomal recessive | 3 | Dec 8, 2021 |
| Thrombophilia due to protein S deficiency, autosomal dominant | 1 | Dec 8, 2021 |
| Thrombophilia due to protein S deficiency, autosomal recessive | 1 | Dec 8, 2021 |
| Thrombophilia due to thrombin defect | 1 | Sep 21, 2021 |
| Thrombophilia, X-linked, due to factor 9 defect | 1 | Sep 21, 2021 |
| Thyroid dyshormonogenesis 1 | 3 | Jan 12, 2022 |
| Thyrotoxic periodic paralysis, susceptibility to, 1 | 338 | Dec 17, 2023 |
| Tibial muscular dystrophy | 635 | Mar 2, 2022 |
| Timothy syndrome | 26 | Aug 10, 2021 |
| Tooth agenesis, selective, 3 | 1 | Dec 4, 2021 |
| Tooth agenesis, selective, 4 | 1 | Aug 23, 2021 |
| Tooth agenesis, selective, 8 | 1 | May 15, 2022 |
| Tooth agenesis, selective, 9 | 1 | May 19, 2021 |
| Torsion dystonia 4 | 1 | May 15, 2022 |
| Townes-Brocks syndrome 1 | 3 | Dec 15, 2021 |
| Townes-Brocks syndrome 2 | 2 | Sep 11, 2021 |
| Transcobalamin II deficiency | 3 | Jan 25, 2022 |
| Transient infantile hypertriglyceridemia and hepatosteatosis | 1 | Sep 21, 2021 |
| Transketolase deficiency | 6 | Feb 21, 2022 |
| Treacher Collins syndrome 2 | 2 | Dec 8, 2021 |
| Tremor, hereditary essential, 4 | 3 | Sep 21, 2021 |
| Tremor, hereditary essential, 5 | 3 | Feb 21, 2022 |
| Tricho-dento-osseous syndrome | 3 | Sep 11, 2021 |
| Trichoepithelioma, multiple familial, 1 | 1 | Sep 11, 2021 |
| Trichohepatoenteric syndrome 1 | 3 | Mar 2, 2022 |
| Trichohepatoenteric syndrome 2 | 5 | Jan 10, 2022 |
| Trichohepatoneurodevelopmental syndrome | 2 | Aug 10, 2021 |
| Trichomegaly-retina pigmentary degeneration-dwarfism syndrome | 13 | Dec 8, 2021 |
| Trichorhinophalangeal dysplasia type I | 1 | Feb 21, 2022 |
| Trichorhinophalangeal syndrome, type III | 1 | Feb 21, 2022 |
| Trichothiodystrophy 1, photosensitive | 6 | Sep 11, 2021 |
| Trichothiodystrophy 5, nonphotosensitive | 1 | Dec 15, 2021 |
| Trichothiodystrophy 6, nonphotosensitive | 1 | Sep 21, 2021 |
| Trichothiodystrophy 7, nonphotosensitive | 3 | Jan 25, 2022 |
| Trimethylaminuria | 5 | Sep 21, 2021 |
| Triokinase and FMN cyclase deficiency syndrome | 5 | Sep 11, 2021 |
| Tuberous sclerosis 1 | 585 | Dec 22, 2021 |
| Tuberous sclerosis 2 | 1641 | Dec 22, 2021 |
| Tubulointerstitial kidney disease, autosomal dominant, 2 | 1 | Nov 10, 2021 |
| Tumoral calcinosis, hyperphosphatemic, familial, 3 | 8 | Oct 18, 2021 |
| Turnpenny-fry syndrome | 1 | Dec 4, 2021 |
| Type 1 diabetes mellitus 2 | 1 | Aug 2, 2021 |
| Type 2 diabetes mellitus | 5 | Dec 8, 2021 |
| Type I complement component 8 deficiency | 1 | Oct 18, 2023 |
| Type II complement component 8 deficiency | 2 | Oct 18, 2023 |
| Tyrosinase-negative oculocutaneous albinism | 73 | Nov 24, 2021 |
| Tyrosinase-positive oculocutaneous albinism | 63 | Dec 22, 2021 |
| Tyrosinemia type I | 22 | Aug 30, 2021 |
| Tyrosinemia type II | 1 | Jan 25, 2022 |
| Tyrosinemia type III | 1 | Sep 21, 2021 |
| UDPglucose-4-epimerase deficiency | 2 | Oct 18, 2023 |
| UV-sensitive syndrome 1 | 7 | Sep 11, 2021 |
| UV-sensitive syndrome 2 | 1 | Sep 11, 2021 |
| Ullrich congenital muscular dystrophy 1A | 35 | Sep 11, 2021 |
| Ullrich congenital muscular dystrophy 2 | 6 | Sep 1, 2021 |
| Ulnar-mammary syndrome | 1 | Jan 25, 2022 |
| Urinary bladder, atony of | 6 | Aug 23, 2021 |
| Urocanate hydratase deficiency | 4 | May 15, 2022 |
| Urofacial syndrome 2 | 2 | Oct 18, 2021 |
| Urofacial syndrome type 1 | 3 | Sep 21, 2021 |
| Uruguay Faciocardiomusculoskeletal syndrome | 1 | Sep 21, 2021 |
| Usher syndrome type 1 | 73 | Nov 17, 2021 |
| Usher syndrome type 1C | 39 | May 15, 2022 |
| Usher syndrome type 1D | 117 | Aug 30, 2021 |
| Usher syndrome type 1F | 63 | Dec 4, 2021 |
| Usher syndrome type 2A | 1081 | Dec 17, 2023 |
| Usher syndrome type 2C | 28 | Dec 4, 2021 |
| Usher syndrome type 3A | 2 | Aug 11, 2021 |
| Usher syndrome, type 4 | 3 | Aug 9, 2021 |
| Uveal coloboma-cleft lip and palate-intellectual disability | 1 | May 15, 2022 |
| Van Maldergem syndrome 1 | 6 | Sep 11, 2021 |
| Van Maldergem syndrome 2 | 15 | Sep 21, 2021 |
| Van den Ende-Gupta syndrome | 6 | Jan 10, 2022 |
| Van der Woude syndrome 2 | 2 | Sep 21, 2021 |
| Vanishing white matter disease | 9 | Sep 21, 2021 |
| Ventriculomegaly and arthrogryposis | 3 | Oct 18, 2021 |
| Ventriculomegaly-cystic kidney disease | 16 | Sep 11, 2021 |
| Vertebral anomalies and variable endocrine and T-cell dysfunction | 5 | Jan 25, 2022 |
| Vertebral, cardiac, renal, and limb defects syndrome 1 | 5 | Sep 21, 2021 |
| Vertebral, cardiac, renal, and limb defects syndrome 2 | 1 | Oct 18, 2021 |
| Vertebral, cardiac, renal, and limb defects syndrome 3 | 9 | Nov 17, 2021 |
| Very long chain acyl-CoA dehydrogenase deficiency | 21 | Aug 30, 2021 |
| Vesicoureteral reflux 8 | 9 | Feb 21, 2022 |
| Vici syndrome | 6 | Sep 11, 2021 |
| Visceral myopathy 1 | 4 | Aug 4, 2021 |
| Visceral myopathy 2 | 12 | Nov 10, 2021 |
| Visceral neuropathy, familial | 4 | Sep 11, 2021 |
| Vissers-Bodmer syndrome | 7 | Sep 1, 2021 |
| Visual impairment and progressive phthisis bulbi | 1 | Nov 10, 2021 |
| Vitamin D-dependent rickets type II with alopecia | 3 | May 15, 2022 |
| Vitelliform macular dystrophy 2 | 5 | Aug 9, 2021 |
| Vitelliform macular dystrophy 3 | 5 | Dec 8, 2021 |
| Vitelliform macular dystrophy 4 | 2 | Oct 18, 2021 |
| Vitelliform macular dystrophy 5 | 3 | Oct 18, 2021 |
| Waardenburg syndrome type 1 | 1 | Dec 4, 2021 |
| Waardenburg syndrome type 2E | 1 | Jan 12, 2022 |
| Waardenburg syndrome type 3 | 1 | Dec 4, 2021 |
| Waardenburg syndrome type 4A | 1 | Sep 11, 2021 |
| Waardenburg syndrome type 4C | 1 | Jan 12, 2022 |
| Wagner syndrome | 11 | May 15, 2022 |
| Warburg micro syndrome 1 | 2 | Dec 15, 2021 |
| Warburg micro syndrome 2 | 3 | Dec 15, 2021 |
| Warburg micro syndrome 3 | 1 | Dec 15, 2021 |
| Warburg micro syndrome 4 | 3 | Aug 2, 2021 |
| Warburg-cinotti syndrome | 4 | Sep 11, 2021 |
| Warsaw breakage syndrome | 11 | Sep 11, 2021 |
| Weaver syndrome | 4 | Sep 21, 2021 |
| Webb-Dattani syndrome | 5 | Aug 9, 2021 |
| Weill-Marchesani 4 syndrome, recessive | 18 | Aug 4, 2021 |
| Weill-Marchesani syndrome 1 | 4 | Aug 4, 2021 |
| Weill-Marchesani syndrome 3 | 4 | Nov 10, 2021 |
| Weiss-Kruszka syndrome | 5 | May 15, 2022 |
| Werner syndrome | 39 | May 15, 2022 |
| White sponge nevus 2 | 5 | Oct 18, 2021 |
| Wilms tumor 1 | 18 | May 15, 2022 |
| Wilson disease | 374 | Jul 21, 2024 |
| Wiskott-Aldrich syndrome 2 | 1 | May 15, 2022 |
| Wolcott-Rallison dysplasia | 6 | Sep 11, 2021 |
| Wolff-Parkinson-White pattern | 1 | Dec 8, 2021 |
| Woolly hair-skin fragility syndrome | 8 | Sep 11, 2021 |
| Wrinkly skin syndrome | 7 | Aug 9, 2021 |
| X-linked Alport syndrome | 17 | Sep 11, 2021 |
| X-linked Emery-Dreifuss muscular dystrophy | 5 | Aug 15, 2021 |
| X-linked agammaglobulinemia | 4 | Aug 9, 2021 |
| X-linked agammaglobulinemia with growth hormone deficiency | 4 | Aug 9, 2021 |
| X-linked central congenital hypothyroidism with late-onset testicular enlargement | 7 | Oct 12, 2021 |
| X-linked chondrodysplasia punctata 1 | 8 | Aug 9, 2021 |
| X-linked complicated corpus callosum dysgenesis | 1 | Oct 18, 2021 |
| X-linked cone-rod dystrophy 1 | 3 | Dec 15, 2021 |
| X-linked cone-rod dystrophy 3 | 5 | Aug 10, 2021 |
| X-linked distal spinal muscular atrophy type 3 | 4 | Aug 11, 2021 |
| X-linked dominant chondrodysplasia, Chassaing-Lacombe type | 2 | Sep 21, 2021 |
| X-linked hydrocephalus syndrome | 1 | Oct 18, 2021 |
| X-linked intellectual disability with marfanoid habitus | 6 | Nov 10, 2021 |
| X-linked intellectual disability, Stocco dos Santos type | 4 | Jan 10, 2022 |
| X-linked intellectual disability-short stature-overweight syndrome | 5 | Feb 21, 2022 |
| X-linked lymphoproliferative disease due to XIAP deficiency | 2 | May 15, 2022 |
| X-linked myopathy with excessive autophagy | 1 | May 15, 2022 |
| X-linked myopathy with postural muscle atrophy | 1 | Sep 21, 2021 |
| X-linked progressive cerebellar ataxia | 10 | Aug 9, 2021 |
| X-linked scapuloperoneal muscular dystrophy | 1 | Sep 21, 2021 |
| X-linked severe combined immunodeficiency | 4 | Aug 15, 2021 |
| X-linked sideroblastic anemia 1 | 1 | May 18, 2021 |
| X-linked sideroblastic anemia with ataxia | 2 | Aug 4, 2021 |
| X-linked spondyloepimetaphyseal dysplasia | 6 | Aug 9, 2021 |
| XFE progeroid syndrome | 5 | Sep 11, 2021 |
| Xeroderma pigmentosum, group C | 34 | May 15, 2022 |
| Xeroderma pigmentosum, group D | 6 | Sep 11, 2021 |
| Xeroderma pigmentosum, group E | 2 | Sep 11, 2021 |
| Xeroderma pigmentosum, group F | 5 | Sep 11, 2021 |
| Xeroderma pigmentosum, group G | 2 | Sep 11, 2021 |
| Yunis-Varon syndrome | 6 | Sep 21, 2021 |
| ZTTK syndrome | 9 | Jan 12, 2022 |
| Zaki syndrome | 1 | Oct 18, 2023 |
| Zimmermann-Laband syndrome 1 | 2 | Oct 18, 2021 |
| Zimmermann-Laband syndrome 2 | 1 | Aug 9, 2021 |
| Zimmermann-laband syndrome 3 | 2 | Oct 18, 2021 |
| alpha Thalassemia | 1 | Aug 2, 2021 |
| beta Thalassemia | 16 | Aug 30, 2021 |
| gamma-Glutamyltransferase deficiency | 1 | Sep 21, 2021 |
| von Willebrand disease type 1 | 60 | May 15, 2022 |
| von Willebrand disease type 2 | 60 | May 15, 2022 |
| von Willebrand disease type 3 | 60 | May 15, 2022 |
