| 3-Methylglutaconic aciduria type 2 | 5 | Apr 4, 2023 |
| 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 5 | Dec 21, 2022 |
| 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | 4 | Dec 21, 2022 |
| 3-methylcrotonyl-CoA carboxylase 2 deficiency | 1 | Aug 3, 2022 |
| 3-methylglutaconic aciduria type 1 | 1 | Aug 3, 2022 |
| 46,XY sex reversal 3 | 3 | Dec 21, 2022 |
| 46,XY sex reversal 6 | 2 | Dec 21, 2022 |
| 46,XY sex reversal 7 | 1 | Dec 21, 2022 |
| 8q24.3 microdeletion syndrome | 8 | Dec 21, 2022 |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 9 | Dec 21, 2022 |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 4 | Dec 21, 2022 |
| ALG1-congenital disorder of glycosylation | 3 | Apr 4, 2023 |
| ALG2-congenital disorder of glycosylation | 1 | Dec 21, 2022 |
| ALG3-congenital disorder of glycosylation | 3 | Apr 4, 2023 |
| ALG6-congenital disorder of glycosylation 1C | 1 | Apr 4, 2023 |
| ALG9 congenital disorder of glycosylation | 1 | Dec 21, 2022 |
| AP-4 deficiency syndrome | 2 | Dec 21, 2022 |
| AP4-related intellectual disability and spastic paraplegia | 1 | Dec 21, 2022 |
| ATP1A3-associated neurological disorder | 1 | Aug 3, 2022 |
| ATP6AP2-related disorder | 1 | Dec 21, 2022 |
| Aarskog syndrome | 2 | Dec 21, 2022 |
| Achondrogenesis type II | 1 | Aug 3, 2022 |
| Achondrogenesis, type IA | 1 | Dec 21, 2022 |
| Achromatopsia 2 | 2 | Dec 21, 2022 |
| Achromatopsia 3 | 4 | Dec 21, 2022 |
| Achromatopsia 4 | 1 | Aug 3, 2022 |
| Acral peeling skin syndrome | 1 | Dec 21, 2022 |
| Acrocallosal syndrome | 1 | Aug 3, 2022 |
| Acrodysostosis 1 with or without hormone resistance | 1 | Dec 21, 2022 |
| Acrofacial dysostosis Cincinnati type | 1 | Apr 4, 2023 |
| Acromelic frontonasal dysostosis | 1 | Dec 21, 2022 |
| Acute intermittent porphyria | 1 | Dec 21, 2022 |
| Acyl-CoA dehydrogenase 9 deficiency | 6 | Apr 4, 2023 |
| Adams-Oliver syndrome 1 | 2 | Dec 21, 2022 |
| Adams-Oliver syndrome 3 | 1 | Dec 21, 2022 |
| Adams-Oliver syndrome 5 | 2 | Dec 21, 2022 |
| Adrenoleukodystrophy | 4 | Dec 21, 2022 |
| Aicardi-Goutieres syndrome 1 | 2 | Nov 1, 2016 |
| Aicardi-Goutieres syndrome 2 | 1 | Dec 21, 2022 |
| Aicardi-Goutieres syndrome 3 | 3 | Dec 21, 2022 |
| Aicardi-Goutieres syndrome 4 | 2 | Dec 21, 2022 |
| Aicardi-Goutieres syndrome 5 | 2 | Apr 4, 2023 |
| Aicardi-Goutieres syndrome 6 | 1 | Dec 21, 2022 |
| Alagille syndrome due to a JAG1 point mutation | 5 | Dec 21, 2022 |
| Alagille syndrome due to a NOTCH2 point mutation | 4 | Dec 21, 2022 |
| Alazami-Yuan syndrome | 2 | Dec 21, 2022 |
| Alexander disease | 9 | Dec 21, 2022 |
| Alkuraya-Kucinskas syndrome | 5 | Dec 21, 2022 |
| Allan-Herndon-Dudley syndrome | 1 | Dec 21, 2022 |
| Alopecia-intellectual disability syndrome 4 | 2 | Aug 3, 2022 |
| Alpha thalassemia-X-linked intellectual disability syndrome | 1 | Dec 21, 2022 |
| Alpha-1-antitrypsin deficiency | 3 | Dec 21, 2022 |
| Alpha-N-acetylgalactosaminidase deficiency | 2 | Dec 21, 2022 |
| Alport syndrome | 3 | Dec 21, 2022 |
| Alstrom syndrome | 7 | Dec 21, 2022 |
| Alternating hemiplegia of childhood 2 | 1 | Nov 1, 2016 |
| Alveolar capillary dysplasia with pulmonary venous misalignment | 1 | Apr 4, 2023 |
| Alzheimer disease 3 | 2 | Dec 21, 2022 |
| Alzheimer disease type 1 | 1 | Aug 3, 2022 |
| Amelogenesis imperfecta, hypomaturation type, IIa6 | 1 | Dec 21, 2022 |
| Amyotrophic lateral sclerosis type 15 | 1 | Dec 21, 2022 |
| Amyotrophic lateral sclerosis type 16 | 2 | Aug 3, 2022 |
| Amyotrophic lateral sclerosis type 18 | 2 | Dec 21, 2022 |
| Amyotrophic lateral sclerosis type 2, juvenile | 1 | Dec 21, 2022 |
| Andersen Tawil syndrome | 3 | Dec 21, 2022 |
| Androgen resistance syndrome | 7 | Dec 21, 2022 |
| Anemia, congenital dyserythropoietic, type 1a | 2 | Dec 21, 2022 |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 9 | Apr 4, 2023 |
| Aneurysm-osteoarthritis syndrome | 6 | Dec 21, 2022 |
| Aniridia 1 | 2 | Dec 21, 2022 |
| Anterior segment dysgenesis | 2 | Dec 21, 2022 |
| Aortic aneurysm, familial thoracic 10 | 1 | Dec 21, 2022 |
| Aortic aneurysm, familial thoracic 12 | 2 | Aug 3, 2022 |
| Aortic aneurysm, familial thoracic 4 | 1 | Dec 21, 2022 |
| Aortic aneurysm, familial thoracic 6 | 2 | Dec 21, 2022 |
| Aortic aneurysm, familial thoracic 7 | 2 | Dec 21, 2022 |
| Aortic valve disease 1 | 1 | Aug 3, 2022 |
| Aortic valve disease 2 | 1 | Dec 21, 2022 |
| Aortic valve disease 3 | 2 | Dec 21, 2022 |
| Argininosuccinate lyase deficiency | 1 | Aug 3, 2022 |
| Arrhinia with choanal atresia and microphthalmia syndrome | 1 | Dec 21, 2022 |
| Arrhythmogenic right ventricular dysplasia 10 | 1 | Dec 21, 2022 |
| Arrhythmogenic right ventricular dysplasia 13 | 2 | Dec 21, 2022 |
| Arrhythmogenic right ventricular dysplasia 5 | 11 | Dec 21, 2022 |
| Arrhythmogenic right ventricular dysplasia 9 | 13 | Dec 21, 2022 |
| Arterial calcification, generalized, of infancy, 1 | 2 | Oct 1, 2019 |
| Arterial calcification, generalized, of infancy, 2 | 1 | Oct 1, 2019 |
| Arterial tortuosity syndrome | 1 | Aug 3, 2022 |
| Arthrogryposis, renal dysfunction, and cholestasis 2 | 1 | Dec 21, 2022 |
| Arts syndrome | 1 | Dec 21, 2022 |
| Asphyxiating thoracic dystrophy 3 | 7 | Dec 21, 2022 |
| Asphyxiating thoracic dystrophy 4 | 1 | Dec 21, 2022 |
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 5 | Dec 21, 2022 |
| Ataxia-telangiectasia syndrome | 10 | Dec 21, 2022 |
| Atrial conduction disease | 2 | Dec 21, 2022 |
| Atrial fibrillation, familial, 7 | 1 | Dec 21, 2022 |
| Atrial septal defect 2 | 1 | Dec 21, 2022 |
| Atrial septal defect 3 | 6 | Dec 21, 2022 |
| Atrial septal defect 4 | 1 | Aug 3, 2022 |
| Atrial septal defect 6 | 2 | Dec 21, 2022 |
| Atrial septal defect 7 | 2 | Dec 21, 2022 |
| Atrial septal defect 8 | 1 | Dec 21, 2022 |
| Atrial septal defect 9 | 1 | Dec 21, 2022 |
| Atrioventricular septal defect 5 | 1 | Dec 21, 2022 |
| Atrophia bulborum hereditaria | 2 | Dec 21, 2022 |
| Atypical glycine encephalopathy | 1 | Aug 3, 2022 |
| Atypical hemolytic-uremic syndrome with I factor anomaly | 2 | Apr 4, 2023 |
| Au-Kline syndrome | 2 | Dec 21, 2022 |
| Auditory neuropathy-optic atrophy syndrome | 3 | Dec 21, 2022 |
| Autism spectrum disorder due to AUTS2 deficiency | 5 | Dec 21, 2022 |
| Autism, susceptibility to, 17 | 2 | Dec 21, 2022 |
| Autosomal dominant Alport syndrome | 7 | Aug 30, 2020 |
| Autosomal dominant Kenny-Caffey syndrome | 3 | Dec 21, 2022 |
| Autosomal dominant Parkinson disease 4 | 1 | Aug 3, 2022 |
| Autosomal dominant Parkinson disease 8 | 2 | Dec 21, 2022 |
| Autosomal dominant Robinow syndrome 2 | 3 | Dec 21, 2022 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | 1 | Aug 3, 2022 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 2 | Dec 21, 2022 |
| Autosomal dominant deafness - onychodystrophy syndrome | 1 | Dec 21, 2022 |
| Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | 4 | Dec 21, 2022 |
| Autosomal dominant ichthyosis vulgaris | 3 | Dec 21, 2022 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 10 | Dec 21, 2022 |
| Autosomal dominant limb-girdle muscular dystrophy type 1F | 1 | Dec 21, 2022 |
| Autosomal dominant medullary cystic kidney disease with or without hyperuricemia | 1 | Dec 21, 2022 |
| Autosomal dominant nocturnal frontal lobe epilepsy 1 | 1 | Aug 3, 2022 |
| Autosomal dominant nocturnal frontal lobe epilepsy 5 | 1 | Apr 4, 2023 |
| Autosomal dominant nonsyndromic hearing loss 10 | 1 | Dec 21, 2022 |
| Autosomal dominant nonsyndromic hearing loss 12 | 2 | Aug 30, 2020 |
| Autosomal dominant nonsyndromic hearing loss 15 | 2 | Dec 21, 2022 |
| Autosomal dominant nonsyndromic hearing loss 17 | 1 | Aug 3, 2022 |
| Autosomal dominant nonsyndromic hearing loss 20 | 1 | Aug 3, 2022 |
| Autosomal dominant nonsyndromic hearing loss 2A | 2 | Dec 21, 2022 |
| Autosomal dominant nonsyndromic hearing loss 3A | 1 | Aug 15, 2019 |
| Autosomal dominant nonsyndromic hearing loss 40 | 1 | Dec 21, 2022 |
| Autosomal dominant nonsyndromic hearing loss 44 | 1 | Dec 21, 2022 |
| Autosomal dominant nonsyndromic hearing loss 4A | 1 | Dec 21, 2022 |
| Autosomal dominant nonsyndromic hearing loss 56 | 1 | Dec 21, 2022 |
| Autosomal dominant nonsyndromic hearing loss 7 | 1 | Dec 21, 2022 |
| Autosomal dominant omodysplasia | 1 | Dec 21, 2022 |
| Autosomal dominant pseudohypoaldosteronism type 1 | 1 | Aug 3, 2022 |
| Autosomal recessive Alport syndrome | 1 | Aug 30, 2020 |
| Autosomal recessive DOPA responsive dystonia | 2 | Dec 21, 2022 |
| Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | 5 | Dec 21, 2022 |
| Autosomal recessive congenital ichthyosis 1 | 2 | Apr 4, 2023 |
| Autosomal recessive congenital ichthyosis 3 | 2 | Dec 21, 2022 |
| Autosomal recessive congenital ichthyosis 4A | 2 | Aug 3, 2022 |
| Autosomal recessive congenital ichthyosis 4B | 1 | Dec 21, 2022 |
| Autosomal recessive congenital ichthyosis 6 | 1 | Dec 21, 2022 |
| Autosomal recessive distal spinal muscular atrophy 1 | 3 | Dec 21, 2022 |
| Autosomal recessive early-onset Parkinson disease 23 | 2 | Dec 21, 2022 |
| Autosomal recessive early-onset Parkinson disease 6 | 1 | Aug 3, 2022 |
| Autosomal recessive inherited pseudoxanthoma elasticum | 4 | Dec 21, 2022 |
| Autosomal recessive juvenile Parkinson disease 2 | 3 | Dec 21, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 3 | Dec 21, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2I | 3 | Dec 21, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2L | 1 | Dec 21, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2P | 1 | Dec 21, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2U | 1 | Dec 21, 2022 |
| Autosomal recessive non-syndromic intellectual disability | 1 | Aug 3, 2022 |
| Autosomal recessive nonsyndromic hearing loss 12 | 4 | Dec 21, 2022 |
| Autosomal recessive nonsyndromic hearing loss 16 | 1 | Aug 15, 2019 |
| Autosomal recessive nonsyndromic hearing loss 18A | 1 | Aug 3, 2022 |
| Autosomal recessive nonsyndromic hearing loss 18B | 6 | Dec 21, 2022 |
| Autosomal recessive nonsyndromic hearing loss 1A | 10 | Dec 21, 2022 |
| Autosomal recessive nonsyndromic hearing loss 1B | 1 | Apr 4, 2023 |
| Autosomal recessive nonsyndromic hearing loss 2 | 3 | Aug 15, 2019 |
| Autosomal recessive nonsyndromic hearing loss 21 | 1 | Dec 21, 2022 |
| Autosomal recessive nonsyndromic hearing loss 22 | 2 | Dec 21, 2022 |
| Autosomal recessive nonsyndromic hearing loss 25 | 1 | Aug 3, 2022 |
| Autosomal recessive nonsyndromic hearing loss 28 | 2 | Dec 21, 2022 |
| Autosomal recessive nonsyndromic hearing loss 29 | 1 | Dec 21, 2022 |
| Autosomal recessive nonsyndromic hearing loss 3 | 13 | Dec 21, 2022 |
| Autosomal recessive nonsyndromic hearing loss 30 | 1 | Dec 21, 2022 |
| Autosomal recessive nonsyndromic hearing loss 35 | 1 | Dec 21, 2022 |
| Autosomal recessive nonsyndromic hearing loss 36 | 1 | Dec 21, 2022 |
| Autosomal recessive nonsyndromic hearing loss 4 | 12 | Apr 4, 2023 |
| Autosomal recessive nonsyndromic hearing loss 49 | 1 | Dec 21, 2022 |
| Autosomal recessive nonsyndromic hearing loss 63 | 2 | Dec 21, 2022 |
| Autosomal recessive nonsyndromic hearing loss 67 | 1 | Dec 21, 2022 |
| Autosomal recessive nonsyndromic hearing loss 77 | 5 | Aug 3, 2022 |
| Autosomal recessive nonsyndromic hearing loss 79 | 1 | Dec 21, 2022 |
| Autosomal recessive nonsyndromic hearing loss 8 | 1 | Dec 21, 2022 |
| Autosomal recessive nonsyndromic hearing loss 9 | 7 | Dec 21, 2022 |
| Autosomal recessive omodysplasia | 1 | Dec 21, 2022 |
| Autosomal recessive osteopetrosis 4 | 1 | Nov 9, 2017 |
| Autosomal recessive polycystic kidney disease | 12 | Dec 21, 2022 |
| Autosomal recessive pseudohypoaldosteronism type 1 | 1 | Apr 4, 2023 |
| Autosomal recessive severe congenital neutropenia due to CSF3R deficiency | 1 | Dec 21, 2022 |
| Autosomal recessive spastic paraplegia type 76 | 1 | Dec 21, 2022 |
| Autosomal recessive spinocerebellar ataxia 10 | 3 | Dec 21, 2022 |
| Axenfeld-Rieger syndrome type 1 | 1 | Apr 4, 2023 |
| Axenfeld-Rieger syndrome type 3 | 1 | Dec 21, 2022 |
| Ayme-Gripp syndrome | 1 | Dec 21, 2022 |
| BRAT1-related neurodevelopmental disorder | 1 | Apr 4, 2023 |
| Band heterotopia of brain | 2 | Dec 21, 2022 |
| Baraitser-Winter syndrome 1 | 4 | Dec 21, 2022 |
| Baraitser-winter syndrome 2 | 1 | Dec 21, 2022 |
| Bardet-Biedl syndrome 1 | 1 | Dec 21, 2022 |
| Bardet-Biedl syndrome 10 | 3 | Dec 21, 2022 |
| Bardet-Biedl syndrome 16 | 1 | Aug 3, 2022 |
| Bardet-Biedl syndrome 2 | 4 | Apr 4, 2023 |
| Bardet-Biedl syndrome 3 | 1 | Dec 21, 2022 |
| Bardet-Biedl syndrome 7 | 2 | Dec 21, 2022 |
| Bardet-Biedl syndrome 9 | 2 | Dec 21, 2022 |
| Bartter disease type 1 | 3 | Apr 4, 2023 |
| Bartter disease type 2 | 5 | Dec 21, 2022 |
| Bartter disease type 3 | 1 | Dec 21, 2022 |
| Bartter disease type 5 | 1 | Dec 21, 2022 |
| Basal ganglia calcification, idiopathic, 5 | 1 | Dec 21, 2022 |
| Basal ganglia calcification, idiopathic, 7, autosomal recessive | 3 | Dec 21, 2022 |
| Basilicata-Akhtar syndrome | 2 | Dec 21, 2022 |
| Benign familial hematuria | 12 | Aug 30, 2020 |
| Benign hereditary chorea | 1 | Dec 21, 2022 |
| Bent bone dysplasia syndrome 1 | 1 | Dec 21, 2022 |
| Beta-D-mannosidosis | 2 | Dec 21, 2022 |
| Bethlem myopathy 2 | 1 | Dec 21, 2022 |
| Bietti crystalline corneoretinal dystrophy | 1 | Dec 21, 2022 |
| Bifunctional peroxisomal enzyme deficiency | 4 | Apr 4, 2023 |
| Bilateral frontoparietal polymicrogyria | 2 | Dec 21, 2022 |
| Biotin-responsive basal ganglia disease | 2 | Nov 1, 2016 |
| Biotinidase deficiency | 2 | Dec 21, 2022 |
| Birk-Barel syndrome | 1 | Apr 4, 2023 |
| Birt-Hogg-Dube syndrome | 2 | Dec 21, 2022 |
| Blepharocheilodontic syndrome 1 | 1 | Dec 21, 2022 |
| Blepharophimosis - intellectual disability syndrome, SBBYS type | 5 | Apr 4, 2023 |
| Blepharophimosis, ptosis, and epicanthus inversus syndrome | 2 | Dec 21, 2022 |
| Blepharophimosis-impaired intellectual development syndrome | 1 | Dec 21, 2022 |
| Bohring-Opitz syndrome | 5 | Dec 21, 2022 |
| Bone fragility with contractures, arterial rupture, and deafness | 1 | Dec 21, 2022 |
| Bone marrow failure syndrome 3 | 2 | Dec 21, 2022 |
| Bone marrow failure syndrome 4 | 1 | Dec 21, 2022 |
| Bone mineral density quantitative trait locus 18 | 1 | Aug 3, 2022 |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | 6 | Dec 21, 2022 |
| Brachydactyly-elbow wrist dysplasia syndrome | 1 | Dec 21, 2022 |
| Brain small vessel disease 1 with or without ocular anomalies | 2 | Dec 21, 2022 |
| Branchiooculofacial syndrome | 1 | Dec 21, 2022 |
| Branchiootorenal syndrome 1 | 2 | Dec 21, 2022 |
| Breast-ovarian cancer, familial, susceptibility to, 4 | 1 | Dec 21, 2022 |
| Brittle cornea syndrome 1 | 1 | Dec 21, 2022 |
| Brown-Vialetto-van Laere syndrome 1 | 2 | Dec 21, 2022 |
| Brown-Vialetto-van Laere syndrome 2 | 3 | Dec 21, 2022 |
| Brugada syndrome | 1 | Dec 21, 2022 |
| Brugada syndrome 1 | 2 | Apr 4, 2023 |
| Brugada syndrome 2 | 1 | Dec 21, 2022 |
| Brugada syndrome 4 | 2 | Dec 21, 2022 |
| Bullous ichthyosiform erythroderma | 1 | Aug 3, 2022 |
| C1Q deficiency | 1 | Dec 21, 2022 |
| CBL-related disorder | 2 | Apr 4, 2023 |
| CCDC115-CDG | 1 | Dec 21, 2022 |
| CEBALID syndrome | 4 | Dec 21, 2022 |
| CEP290-related ciliopathy | 3 | Dec 21, 2022 |
| CHARGE association | 17 | Apr 4, 2023 |
| CODAS syndrome | 1 | Aug 3, 2022 |
| COG6-ongenital disorder of glycosylation | 1 | Dec 21, 2022 |
| COG8-congenital disorder of glycosylation | 2 | Dec 21, 2022 |
| COL4A1 or COL4A2-related cerebral small vessel disease | 10 | Apr 4, 2023 |
| Camptomelic dysplasia | 2 | Aug 3, 2022 |
| Capillary malformation-arteriovenous malformation 1 | 5 | Dec 21, 2022 |
| Capillary malformation-arteriovenous malformation 2 | 8 | Dec 21, 2022 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 20 | Dec 21, 2022 |
| Cardiac arrhythmia, ankyrin-B-related | 2 | Dec 21, 2022 |
| Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | 5 | Dec 21, 2022 |
| Cardiac valvular dysplasia, X-linked | 1 | Aug 3, 2022 |
| Cardiac, facial, and digital anomalies with developmental delay | 2 | Aug 3, 2022 |
| Cardiac-urogenital syndrome | 1 | Dec 21, 2022 |
| Cardioacrofacial dysplasia 2 | 1 | Dec 21, 2022 |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 3 | Dec 21, 2022 |
| Cardiofaciocutaneous syndrome 1 | 2 | Dec 21, 2022 |
| Cardiofaciocutaneous syndrome 2 | 1 | Dec 21, 2022 |
| Cardiofaciocutaneous syndrome 3 | 1 | Dec 21, 2022 |
| Cardiomyopathy | 15 | Dec 21, 2022 |
| Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | 1 | Apr 4, 2023 |
| Cardiomyopathy, familial hypertrophic 27 | 19 | Dec 21, 2022 |
| Cardiomyopathy, familial hypertrophic, 28 | 9 | Dec 21, 2022 |
| Cardiospondylocarpofacial syndrome | 1 | Dec 21, 2022 |
| Carnitine palmitoyl transferase II deficiency, myopathic form | 2 | Dec 21, 2022 |
| Cataract 1 multiple types | 1 | Aug 3, 2022 |
| Cataract 15 multiple types | 1 | Dec 21, 2022 |
| Cataract 20 multiple types | 1 | Dec 21, 2022 |
| Cataract 21 multiple types | 1 | Aug 3, 2022 |
| Cataract 30 | 1 | Aug 3, 2022 |
| Cataract 38 | 1 | Dec 21, 2022 |
| Cataract 48 | 1 | Aug 3, 2022 |
| Cataract 6 multiple types | 1 | Dec 21, 2022 |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 23 | Apr 4, 2023 |
| Catecholaminergic polymorphic ventricular tachycardia 2 | 1 | Dec 21, 2022 |
| Catecholaminergic polymorphic ventricular tachycardia 3 | 4 | Dec 21, 2022 |
| Catecholaminergic polymorphic ventricular tachycardia 5 | 3 | Dec 21, 2022 |
| Catifa syndrome | 1 | Dec 21, 2022 |
| Central core myopathy | 1 | Oct 1, 2019 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 | 1 | Dec 21, 2022 |
| Cerebellar ataxia-hypogonadism syndrome | 1 | Dec 21, 2022 |
| Cerebellar atrophy with seizures and variable developmental delay | 1 | Dec 21, 2022 |
| Cerebellar atrophy, visual impairment, and psychomotor retardation; | 4 | Dec 21, 2022 |
| Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 2 | Dec 21, 2022 |
| Cerebellar-facial-dental syndrome | 1 | Dec 21, 2022 |
| Cerebral amyloid angiopathy, APP-related | 2 | Aug 3, 2022 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 10 | Dec 21, 2022 |
| Cerebral cavernous malformation | 3 | Dec 21, 2022 |
| Cerebral cavernous malformation 1 | 2 | Dec 21, 2022 |
| Cerebral folate transport deficiency | 1 | Aug 3, 2022 |
| Cerebro-costo-mandibular syndrome | 1 | Apr 4, 2023 |
| Cerebrooculofacioskeletal syndrome 3 | 3 | Dec 21, 2022 |
| Cerebroretinal microangiopathy with calcifications and cysts 1 | 2 | Dec 21, 2022 |
| Char syndrome | 1 | Dec 21, 2022 |
| Charcot-Marie-Tooth Disease, axonal, type 2GG | 1 | Aug 3, 2022 |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 2 | Dec 21, 2022 |
| Charcot-Marie-Tooth disease X-linked recessive 4 | 1 | Dec 21, 2022 |
| Charcot-Marie-Tooth disease axonal type 2C | 1 | Dec 21, 2022 |
| Charcot-Marie-Tooth disease axonal type 2CC | 1 | Dec 21, 2022 |
| Charcot-Marie-Tooth disease axonal type 2F | 1 | Aug 3, 2022 |
| Charcot-Marie-Tooth disease axonal type 2L | 1 | Dec 21, 2022 |
| Charcot-Marie-Tooth disease axonal type 2N | 1 | Dec 21, 2022 |
| Charcot-Marie-Tooth disease axonal type 2O | 1 | Aug 3, 2022 |
| Charcot-Marie-Tooth disease axonal type 2X | 1 | Dec 21, 2022 |
| Charcot-Marie-Tooth disease dominant intermediate E | 1 | Dec 21, 2022 |
| Charcot-Marie-Tooth disease dominant intermediate F | 1 | Dec 21, 2022 |
| Charcot-Marie-Tooth disease type 2Y | 1 | Dec 21, 2022 |
| Charcot-Marie-Tooth disease type 4B3 | 2 | Dec 21, 2022 |
| Charcot-Marie-Tooth disease type 4F | 1 | Dec 21, 2022 |
| Charcot-marie-tooth disease, axonal, type 2DD | 2 | Aug 3, 2022 |
| Charlevoix-Saguenay spastic ataxia | 4 | Dec 21, 2022 |
| Childhood apraxia of speech | 3 | Dec 21, 2022 |
| Childhood onset GLUT1 deficiency syndrome 2 | 1 | Dec 21, 2022 |
| Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | 1 | Dec 21, 2022 |
| Cholestanol storage disease | 2 | Dec 21, 2022 |
| Cholestasis, progressive familial intrahepatic, 4 | 2 | Dec 21, 2022 |
| Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss | 2 | Dec 21, 2022 |
| Cholestatic liver disease | 2 | Sep 16, 2020 |
| Chondrodysplasia punctata 2 X-linked dominant | 1 | Aug 3, 2022 |
| Chopra-Amiel-Gordon syndrome | 1 | Dec 21, 2022 |
| Choroideremia | 5 | Dec 21, 2022 |
| Chromosome 1p32-p31 deletion syndrome | 6 | Dec 21, 2022 |
| Chromosome 2q32-q33 deletion syndrome | 2 | Dec 21, 2022 |
| Chudley-McCullough syndrome | 1 | Dec 21, 2022 |
| Ciliary dyskinesia, primary, 40 | 2 | Aug 3, 2022 |
| Ciliary dyskinesia, primary, 41 | 1 | Aug 3, 2022 |
| Ciliopathy | 1 | Aug 3, 2022 |
| Citrullinemia type I | 3 | Apr 4, 2023 |
| Clark-Baraitser syndrome | 5 | Dec 21, 2022 |
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 5 | Dec 21, 2022 |
| Classic homocystinuria | 4 | Dec 21, 2022 |
| Cleft lip with or without cleft palate | 1 | Dec 21, 2022 |
| Cleidocranial dysostosis | 2 | Dec 21, 2022 |
| Cobalamin C disease | 1 | Dec 21, 2022 |
| Cobblestone lissencephaly without muscular or ocular involvement | 1 | Dec 21, 2022 |
| Cockayne syndrome type 2 | 2 | Dec 21, 2022 |
| Coffin-Lowry syndrome | 1 | Dec 21, 2022 |
| Coffin-Siris syndrome 1 | 16 | Apr 4, 2023 |
| Coffin-Siris syndrome 11 | 2 | Dec 21, 2022 |
| Coffin-Siris syndrome 6 | 4 | Dec 21, 2022 |
| Coffin-Siris syndrome 7 | 1 | Dec 21, 2022 |
| Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome | 2 | Dec 21, 2022 |
| Cognitive impairment with or without cerebellar ataxia | 2 | Dec 21, 2022 |
| Cohen syndrome | 7 | Dec 21, 2022 |
| Cohen-Gibson syndrome | 1 | Aug 3, 2022 |
| Collagen 6-related myopathy | 1 | Dec 21, 2022 |
| Combined deficiency of sialidase AND beta galactosidase | 1 | Dec 21, 2022 |
| Combined immunodeficiency due to LRBA deficiency | 1 | Dec 21, 2022 |
| Combined immunodeficiency due to MALT1 deficiency | 1 | Aug 3, 2022 |
| Combined immunodeficiency, X-linked | 1 | Aug 3, 2022 |
| Combined oxidative phosphorylation defect type 13 | 5 | Dec 21, 2022 |
| Combined oxidative phosphorylation defect type 17 | 2 | Dec 21, 2022 |
| Combined oxidative phosphorylation defect type 20 | 2 | Dec 21, 2022 |
| Combined oxidative phosphorylation defect type 21 | 2 | Dec 21, 2022 |
| Combined oxidative phosphorylation defect type 23 | 3 | Aug 3, 2022 |
| Combined oxidative phosphorylation defect type 27 | 1 | Dec 21, 2022 |
| Combined oxidative phosphorylation defect type 7 | 1 | Dec 21, 2022 |
| Combined oxidative phosphorylation defect type 8 | 2 | Dec 21, 2022 |
| Combined oxidative phosphorylation deficiency 32 | 1 | Dec 21, 2022 |
| Combined oxidative phosphorylation deficiency 39 | 1 | Dec 21, 2022 |
| Combined oxidative phosphorylation deficiency 40 | 1 | Aug 3, 2022 |
| Complex cortical dysplasia with other brain malformations 1 | 2 | Dec 21, 2022 |
| Complex cortical dysplasia with other brain malformations 2 | 2 | Dec 21, 2022 |
| Complex cortical dysplasia with other brain malformations 6 | 2 | Dec 21, 2022 |
| Complex neurodevelopmental disorder | 2 | Aug 3, 2022 |
| Cone dystrophy 3 | 1 | Aug 3, 2022 |
| Cone-rod dystrophy 13 | 2 | Dec 21, 2022 |
| Cone-rod dystrophy 20 | 1 | Dec 21, 2022 |
| Cone-rod dystrophy 3 | 6 | Dec 21, 2022 |
| Cone-rod dystrophy 5 | 2 | Dec 21, 2022 |
| Cone-rod dystrophy 7 | 1 | Dec 21, 2022 |
| Cone-rod synaptic disorder, congenital nonprogressive | 1 | Dec 21, 2022 |
| Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | 3 | Dec 21, 2022 |
| Congenital adrenal hypoplasia, X-linked | 3 | Dec 21, 2022 |
| Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | 1 | Dec 21, 2022 |
| Congenital amegakaryocytic thrombocytopenia | 2 | Apr 4, 2023 |
| Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | 1 | Dec 21, 2022 |
| Congenital anomaly of kidney and urinary tract | 1 | Dec 21, 2022 |
| Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | 3 | Dec 21, 2022 |
| Congenital cataracts-facial dysmorphism-neuropathy syndrome | 1 | Dec 21, 2022 |
| Congenital central hypoventilation | 1 | Oct 1, 2019 |
| Congenital cerebellar hypoplasia | 1 | Dec 21, 2022 |
| Congenital contractural arachnodactyly | 15 | Dec 21, 2022 |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | 1 | Nov 1, 2016 |
| Congenital disorder of deglycosylation 1 | 2 | Dec 21, 2022 |
| Congenital disorder of deglycosylation 2 | 2 | Dec 21, 2022 |
| Congenital disorder of glycosylation type 1E | 1 | Dec 21, 2022 |
| Congenital disorder of glycosylation, type IAA | 1 | Dec 21, 2022 |
| Congenital disorder of glycosylation, type IIr | 1 | Aug 3, 2022 |
| Congenital dyserythropoietic anemia, type II | 3 | Dec 21, 2022 |
| Congenital fibrosis of extraocular muscles type 1 | 1 | Dec 21, 2022 |
| Congenital generalized lipodystrophy type 1 | 2 | Dec 21, 2022 |
| Congenital heart defects and ectodermal dysplasia | 2 | Dec 21, 2022 |
| Congenital heart defects and skeletal malformations syndrome | 1 | Aug 3, 2022 |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 5 | Dec 21, 2022 |
| Congenital heart defects, multiple types, 2 | 1 | Dec 21, 2022 |
| Congenital heart defects, multiple types, 4 | 2 | Dec 21, 2022 |
| Congenital heart defects, multiple types, 6 | 2 | Dec 21, 2022 |
| Congenital heart defects, multiple types, 7 | 2 | Dec 21, 2022 |
| Congenital heart disease | 2 | Dec 21, 2022 |
| Congenital hyperammonemia, type I | 5 | Dec 21, 2022 |
| Congenital isolated adrenocorticotropic hormone deficiency | 1 | Apr 4, 2023 |
| Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 2 | Apr 4, 2023 |
| Congenital long QT syndrome | 2 | Aug 3, 2022 |
| Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | 1 | Aug 3, 2022 |
| Congenital microvillous atrophy | 2 | Aug 3, 2022 |
| Congenital muscular hypertrophy-cerebral syndrome | 4 | Dec 21, 2022 |
| Congenital myasthenic syndrome 10 | 1 | Dec 21, 2022 |
| Congenital myasthenic syndrome 11 | 3 | Dec 21, 2022 |
| Congenital myasthenic syndrome 19 | 2 | Aug 3, 2022 |
| Congenital myasthenic syndrome 5 | 2 | Aug 3, 2022 |
| Congenital nonprogressive myopathy with Moebius and Robin sequences | 2 | Dec 21, 2022 |
| Congenital secretory sodium diarrhea 3 | 1 | Apr 4, 2023 |
| Congenital stationary night blindness 1E | 1 | Dec 21, 2022 |
| Cornelia de Lange syndrome 1 | 15 | Dec 21, 2022 |
| Cornelia de Lange syndrome 3 | 1 | Dec 21, 2022 |
| Cornelia de Lange syndrome 4 | 1 | Dec 21, 2022 |
| Cornelia de Lange syndrome 5 | 2 | Aug 30, 2020 |
| Cortical dysplasia, complex, with other brain malformations 10 | 2 | Dec 21, 2022 |
| Cortical dysplasia, complex, with other brain malformations 9 | 1 | Dec 21, 2022 |
| Cortical dysplasia-focal epilepsy syndrome | 2 | Dec 21, 2022 |
| Costello syndrome | 4 | Dec 21, 2022 |
| Cowden syndrome 1 | 6 | Dec 21, 2022 |
| Cowden syndrome 5 | 1 | Dec 21, 2022 |
| Cowden syndrome 6 | 1 | Dec 21, 2022 |
| Craniofrontonasal syndrome | 1 | Dec 21, 2022 |
| Craniosynostosis 7 | 1 | Dec 21, 2022 |
| Cryopyrin associated periodic syndrome | 1 | Dec 21, 2022 |
| Cryptorchidism | 1 | Dec 21, 2022 |
| Currarino triad | 3 | Dec 21, 2022 |
| Cutaneous photosensitivity | 2 | Sep 16, 2020 |
| Cutaneous porphyria | 1 | Dec 21, 2022 |
| Cutis laxa with osteodystrophy | 1 | Aug 3, 2022 |
| Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | 1 | Dec 21, 2022 |
| Cutis laxa, autosomal dominant 1 | 2 | Dec 21, 2022 |
| Cutis laxa, autosomal recessive, type 1B | 2 | Dec 21, 2022 |
| Cystic fibrosis | 2 | Apr 4, 2023 |
| Cystinuria | 1 | Apr 4, 2023 |
| D-2-hydroxyglutaric aciduria 1 | 2 | Dec 21, 2022 |
| D-2-hydroxyglutaric aciduria 2 | 1 | Dec 21, 2022 |
| DYRK1A-related intellectual disability syndrome | 5 | Apr 4, 2023 |
| Danon disease | 3 | Dec 21, 2022 |
| De Lange syndrome | 2 | Aug 3, 2022 |
| DeSanto-Shinawi syndrome | 1 | Aug 3, 2022 |
| Deafness with labyrinthine aplasia, microtia, and microdontia | 1 | Dec 21, 2022 |
| Deafness-encephaloneuropathy-obesity-valvulopathy syndrome | 1 | Apr 4, 2023 |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2 | Dec 21, 2022 |
| Deficiency of acetyl-CoA acetyltransferase | 1 | Dec 21, 2022 |
| Deficiency of alpha-mannosidase | 2 | Dec 21, 2022 |
| Deficiency of aromatic-L-amino-acid decarboxylase | 4 | Dec 21, 2022 |
| Deficiency of butyryl-CoA dehydrogenase | 2 | Dec 21, 2022 |
| Deficiency of butyrylcholinesterase | 3 | Dec 21, 2022 |
| Deficiency of guanidinoacetate methyltransferase | 1 | Dec 21, 2022 |
| Deficiency of hydroxymethylglutaryl-CoA lyase | 1 | Dec 21, 2022 |
| Deficiency of iodide peroxidase | 1 | Dec 21, 2022 |
| Deficiency of malonyl-CoA decarboxylase | 1 | Dec 21, 2022 |
| Dent disease type 1 | 8 | Dec 21, 2022 |
| Dent disease type 2 | 1 | Dec 21, 2022 |
| Dermatofibrosis lenticularis disseminata | 1 | Aug 3, 2022 |
| Developmental and epileptic encephalopathy 94 | 6 | Dec 21, 2022 |
| Developmental and epileptic encephalopathy 96 | 1 | Aug 3, 2022 |
| Developmental and epileptic encephalopathy, 11 | 11 | Dec 21, 2022 |
| Developmental and epileptic encephalopathy, 13 | 5 | Dec 21, 2022 |
| Developmental and epileptic encephalopathy, 14 | 4 | Apr 4, 2023 |
| Developmental and epileptic encephalopathy, 17 | 2 | Dec 21, 2022 |
| Developmental and epileptic encephalopathy, 18 | 4 | Dec 21, 2022 |
| Developmental and epileptic encephalopathy, 2 | 5 | Dec 21, 2022 |
| Developmental and epileptic encephalopathy, 23 | 2 | Apr 4, 2023 |
| Developmental and epileptic encephalopathy, 24 | 1 | Dec 21, 2022 |
| Developmental and epileptic encephalopathy, 26 | 5 | Dec 21, 2022 |
| Developmental and epileptic encephalopathy, 28 | 3 | Apr 4, 2023 |
| Developmental and epileptic encephalopathy, 31 | 1 | Dec 21, 2022 |
| Developmental and epileptic encephalopathy, 32 | 1 | Aug 3, 2022 |
| Developmental and epileptic encephalopathy, 35 | 1 | Dec 21, 2022 |
| Developmental and epileptic encephalopathy, 36 | 1 | Dec 21, 2022 |
| Developmental and epileptic encephalopathy, 39 | 1 | Dec 21, 2022 |
| Developmental and epileptic encephalopathy, 4 | 12 | Apr 4, 2023 |
| Developmental and epileptic encephalopathy, 42 | 9 | Dec 21, 2022 |
| Developmental and epileptic encephalopathy, 43 | 3 | Apr 4, 2023 |
| Developmental and epileptic encephalopathy, 44 | 2 | Apr 4, 2023 |
| Developmental and epileptic encephalopathy, 45 | 1 | Dec 21, 2022 |
| Developmental and epileptic encephalopathy, 5 | 5 | Apr 4, 2023 |
| Developmental and epileptic encephalopathy, 50 | 3 | Dec 21, 2022 |
| Developmental and epileptic encephalopathy, 52 | 1 | Dec 21, 2022 |
| Developmental and epileptic encephalopathy, 54 | 3 | Dec 21, 2022 |
| Developmental and epileptic encephalopathy, 56 | 1 | Aug 3, 2022 |
| Developmental and epileptic encephalopathy, 57 | 2 | Dec 21, 2022 |
| Developmental and epileptic encephalopathy, 58 | 1 | Dec 21, 2022 |
| Developmental and epileptic encephalopathy, 6 | 4 | Dec 21, 2022 |
| Developmental and epileptic encephalopathy, 60 | 1 | Dec 21, 2022 |
| Developmental and epileptic encephalopathy, 62 | 3 | Dec 21, 2022 |
| Developmental and epileptic encephalopathy, 64 | 3 | Dec 21, 2022 |
| Developmental and epileptic encephalopathy, 67 | 3 | Dec 21, 2022 |
| Developmental and epileptic encephalopathy, 69 | 5 | Apr 4, 2023 |
| Developmental and epileptic encephalopathy, 7 | 13 | Apr 4, 2023 |
| Developmental and epileptic encephalopathy, 70 | 1 | Aug 3, 2022 |
| Developmental and epileptic encephalopathy, 71 | 1 | Dec 21, 2022 |
| Developmental and epileptic encephalopathy, 72 | 2 | Dec 21, 2022 |
| Developmental and epileptic encephalopathy, 73 | 1 | Dec 21, 2022 |
| Developmental and epileptic encephalopathy, 74 | 2 | Dec 21, 2022 |
| Developmental and epileptic encephalopathy, 75 | 3 | Aug 3, 2022 |
| Developmental and epileptic encephalopathy, 79 | 1 | Aug 3, 2022 |
| Developmental and epileptic encephalopathy, 83 | 1 | Apr 4, 2023 |
| Developmental and epileptic encephalopathy, 84 | 2 | Dec 21, 2022 |
| Developmental and epileptic encephalopathy, 85, with or without midline brain defects | 1 | Aug 3, 2022 |
| Developmental and epileptic encephalopathy, 87 | 1 | Dec 21, 2022 |
| Developmental and epileptic encephalopathy, 9 | 7 | Apr 4, 2023 |
| Developmental delay with autism spectrum disorder and gait instability | 2 | Dec 21, 2022 |
| Developmental delay with or without dysmorphic facies and autism | 11 | Dec 21, 2022 |
| Developmental delay with variable intellectual impairment and behavioral abnormalities | 5 | Dec 21, 2022 |
| Developmental delay with variable neurologic and brain abnormalities | 2 | Aug 3, 2022 |
| Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy | 1 | Aug 3, 2022 |
| Developmental delay, impaired speech, and behavioral abnormalities | 2 | Dec 21, 2022 |
| Developmental malformations-deafness-dystonia syndrome | 2 | Dec 21, 2022 |
| DiGeorge syndrome | 1 | Aug 3, 2022 |
| Diabetes insipidus, nephrogenic, X-linked | 3 | Aug 3, 2022 |
| Diamond-Blackfan anemia 12 | 1 | Oct 1, 2019 |
| Diamond-Blackfan anemia 6 | 2 | Dec 21, 2022 |
| Dias-Logan syndrome | 2 | Dec 21, 2022 |
| Diencephalic-mesencephalic junction dysplasia syndrome 1 | 2 | Dec 21, 2022 |
| Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | 2 | Dec 21, 2022 |
| Diffuse nonepidermolytic palmoplantar keratoderma | 2 | Dec 21, 2022 |
| Dihydropyrimidine dehydrogenase deficiency | 8 | Dec 21, 2022 |
| Dilated cardiomyopathy 1AA | 5 | Dec 21, 2022 |
| Dilated cardiomyopathy 1C | 3 | Dec 21, 2022 |
| Dilated cardiomyopathy 1CC | 2 | Dec 21, 2022 |
| Dilated cardiomyopathy 1D | 8 | Apr 4, 2023 |
| Dilated cardiomyopathy 1DD | 8 | Dec 21, 2022 |
| Dilated cardiomyopathy 1E | 1 | Oct 1, 2019 |
| Dilated cardiomyopathy 1EE | 1 | Dec 21, 2022 |
| Dilated cardiomyopathy 1HH | 6 | Apr 4, 2023 |
| Dilated cardiomyopathy 1II | 1 | Oct 1, 2019 |
| Dilated cardiomyopathy 1JJ | 3 | Dec 21, 2022 |
| Dilated cardiomyopathy 1NN | 2 | Dec 21, 2022 |
| Dilated cardiomyopathy 1O | 2 | Dec 21, 2022 |
| Dilated cardiomyopathy 1P | 1 | Aug 3, 2022 |
| Dilated cardiomyopathy 1R | 1 | Dec 21, 2022 |
| Dilated cardiomyopathy 1S | 1 | Apr 4, 2023 |
| Dilated cardiomyopathy 1W | 4 | Dec 21, 2022 |
| Dilated cardiomyopathy 1Y | 1 | Dec 21, 2022 |
| Dilated cardiomyopathy 3B | 3 | Dec 21, 2022 |
| Distal arthrogryposis type 2B1 | 1 | Dec 21, 2022 |
| Distal arthrogryposis type 5D | 3 | Dec 21, 2022 |
| Distal spinal muscular atrophy | 1 | Dec 21, 2022 |
| Distichiasis-lymphedema syndrome | 1 | Dec 21, 2022 |
| Drash syndrome | 1 | Apr 4, 2023 |
| Duane-radial ray syndrome | 2 | Dec 21, 2022 |
| Duchenne and Becker muscular dystrophy | 3 | Dec 21, 2022 |
| Duchenne muscular dystrophy | 8 | Apr 4, 2023 |
| Dysequilibrium syndrome | 1 | Aug 3, 2022 |
| Dyskeratosis congenita | 1 | Aug 3, 2022 |
| Dyskeratosis congenita, X-linked | 1 | Dec 21, 2022 |
| Dyskeratosis congenita, autosomal dominant 3 | 1 | Aug 3, 2022 |
| Dystonia 24 | 1 | Dec 21, 2022 |
| Dystonia 25 | 1 | Dec 21, 2022 |
| Dystonia 28, childhood-onset | 2 | Dec 21, 2022 |
| Dystonic disorder | 1 | Dec 21, 2022 |
| Dystrophinopathy | 1 | Apr 4, 2023 |
| Early infantile epileptic encephalopathy with suppression bursts | 3 | Apr 4, 2023 |
| Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | 8 | Dec 21, 2022 |
| Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | 2 | Dec 21, 2022 |
| Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome | 1 | Dec 21, 2022 |
| Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis | 2 | Dec 21, 2022 |
| Ectodermal dysplasia and immunodeficiency 1 | 2 | Dec 21, 2022 |
| Ectopia lentis 2, isolated, autosomal recessive | 1 | Dec 21, 2022 |
| Ectrodactyly | 1 | Aug 15, 2019 |
| Ehlers-Danlos syndrome due to tenascin-X deficiency | 3 | Apr 4, 2023 |
| Ehlers-Danlos syndrome, arthrochalasia type | 1 | Dec 21, 2022 |
| Ehlers-Danlos syndrome, classic type, 1 | 7 | Dec 21, 2022 |
| Ehlers-Danlos syndrome, classic type, 2 | 4 | Dec 21, 2022 |
| Ehlers-Danlos syndrome, dermatosparaxis type | 1 | Dec 21, 2022 |
| Ehlers-Danlos syndrome, periodontal type 1 | 2 | Dec 21, 2022 |
| Ehlers-Danlos syndrome, spondylodysplastic type, 1 | 1 | Dec 21, 2022 |
| Ehlers-Danlos syndrome, spondylodysplastic type, 2 | 1 | Dec 21, 2022 |
| Elliptocytosis 3 | 1 | Aug 15, 2019 |
| Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 1 | Dec 21, 2022 |
| Encephalopathy, acute, infection-induced, susceptibility to, 9 | 2 | Apr 4, 2023 |
| Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | 2 | Apr 4, 2023 |
| Encephalopathy, progressive, with amyotrophy and optic atrophy | 1 | Dec 21, 2022 |
| Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive | 1 | Dec 21, 2022 |
| Epidermolysis bullosa, junctional 3B, severe | 1 | Aug 3, 2022 |
| Epilepsy, childhood absence, susceptibility to, 6 | 2 | Aug 3, 2022 |
| Epilepsy, early-onset, vitamin B6-dependent | 4 | Dec 21, 2022 |
| Epilepsy, familial focal, with variable foci 1 | 8 | Dec 21, 2022 |
| Epilepsy, familial focal, with variable foci 2 | 1 | Dec 21, 2022 |
| Epilepsy, familial focal, with variable foci 3 | 3 | Dec 21, 2022 |
| Epilepsy, idiopathic generalized, susceptibility to, 10 | 2 | Dec 21, 2022 |
| Epilepsy, idiopathic generalized, susceptibility to, 15 | 1 | Aug 3, 2022 |
| Epileptic encephalopathy, infantile or early childhood, 1 | 1 | Dec 21, 2022 |
| Epileptic encephalopathy, infantile or early childhood, 2 | 3 | Dec 21, 2022 |
| Episodic ataxia type 1 | 1 | Dec 21, 2022 |
| Episodic ataxia type 2 | 6 | Dec 21, 2022 |
| Episodic ataxia type 6 | 1 | Dec 21, 2022 |
| Episodic kinesigenic dyskinesia 1 | 2 | Dec 21, 2022 |
| Erythrocytosis, familial, 4 | 2 | Dec 21, 2022 |
| Ethylmalonic encephalopathy | 2 | Apr 4, 2023 |
| Exostoses, multiple, type 1 | 1 | Dec 21, 2022 |
| Exudative vitreoretinopathy 1 | 2 | Dec 21, 2022 |
| Exudative vitreoretinopathy 5 | 1 | Aug 3, 2022 |
| Exudative vitreoretinopathy 7 | 1 | Dec 21, 2022 |
| FG syndrome 2 | 1 | Aug 3, 2022 |
| FG syndrome 4 | 1 | Dec 21, 2022 |
| FGFR2-related disorder | 1 | Apr 4, 2023 |
| FRAXE | 2 | Dec 21, 2022 |
| Fabry disease | 6 | Dec 21, 2022 |
| Facial dysmorphism-immunodeficiency-livedo-short stature syndrome | 1 | Dec 21, 2022 |
| Factor XIII, b subunit, deficiency of | 1 | Aug 3, 2022 |
| Failure to thrive | 2 | Sep 16, 2020 |
| Familial Alzheimer disease | 1 | Aug 3, 2022 |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 3 | Dec 21, 2022 |
| Familial acute necrotizing encephalopathy | 2 | Apr 4, 2023 |
| Familial cardiomyopathy | 2 | Dec 21, 2022 |
| Familial episodic pain syndrome with predominantly lower limb involvement | 1 | Dec 21, 2022 |
| Familial hemophagocytic lymphohistiocytosis 2 | 1 | Dec 21, 2022 |
| Familial hemophagocytic lymphohistiocytosis 4 | 1 | Dec 21, 2022 |
| Familial hypocalciuric hypercalcemia 1 | 2 | Dec 21, 2022 |
| Familial hypokalemia-hypomagnesemia | 13 | Dec 21, 2022 |
| Familial infantile myasthenia | 2 | Dec 21, 2022 |
| Familial isolated dilated cardiomyopathy | 2 | Dec 21, 2022 |
| Familial juvenile hyperuricemic nephropathy type 1 | 6 | Dec 21, 2022 |
| Familial medullary thyroid carcinoma | 1 | Dec 21, 2022 |
| Familial pityriasis rubra pilaris | 1 | Dec 21, 2022 |
| Familial visceral amyloidosis, Ostertag type | 1 | Apr 4, 2023 |
| Fanconi anemia complementation group A | 3 | Dec 21, 2022 |
| Fanconi anemia complementation group B | 1 | Aug 3, 2022 |
| Fanconi anemia complementation group C | 2 | Dec 21, 2022 |
| Fanconi anemia complementation group D2 | 1 | Dec 21, 2022 |
| Fanconi anemia complementation group G | 1 | Dec 21, 2022 |
| Fanconi anemia complementation group P | 2 | Dec 21, 2022 |
| Fanconi anemia complementation group Q | 2 | Dec 21, 2022 |
| Fanconi anemia complementation group R | 2 | Apr 4, 2023 |
| Fanconi anemia, complementation group S | 2 | Dec 21, 2022 |
| Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | 3 | Dec 21, 2022 |
| Febrile seizures, familial, 8 | 2 | Apr 4, 2023 |
| Feingold syndrome type 1 | 3 | Apr 4, 2023 |
| Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | 1 | Aug 3, 2022 |
| Fibrosis of extraocular muscles, congenital, 5 | 2 | Aug 3, 2022 |
| Filippi syndrome | 2 | Dec 21, 2022 |
| Finnish congenital nephrotic syndrome | 9 | Dec 21, 2022 |
| Floating-Harbor syndrome | 3 | Dec 21, 2022 |
| Focal dermal hypoplasia | 1 | Aug 3, 2022 |
| Focal segmental glomerulosclerosis 1 | 2 | Apr 4, 2023 |
| Focal segmental glomerulosclerosis 5 | 4 | Dec 21, 2022 |
| Focal segmental glomerulosclerosis 8 | 2 | Dec 21, 2022 |
| Focal segmental glomerulosclerosis and neurodevelopmental syndrome | 2 | Dec 21, 2022 |
| Fraser syndrome 1 | 1 | Dec 21, 2022 |
| Frasier syndrome | 1 | Apr 4, 2023 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 2 | Dec 21, 2022 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 | 1 | Dec 21, 2022 |
| Fuhrmann syndrome | 1 | Aug 3, 2022 |
| GATA binding protein 1 related thrombocytopenia with dyserythropoiesis | 1 | Apr 4, 2023 |
| GLUT1 deficiency syndrome | 2 | Aug 3, 2022 |
| GM1 gangliosidosis | 4 | Apr 4, 2023 |
| GRIK2-related neurodevelopmental disorder | 1 | Oct 1, 2019 |
| GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder | 2 | Dec 21, 2022 |
| Galactosylceramide beta-galactosidase deficiency | 5 | Dec 21, 2022 |
| Galloway-Mowat syndrome 3 | 2 | Dec 21, 2022 |
| Galloway-Mowat syndrome 4 | 2 | Dec 21, 2022 |
| Gastrointestinal defects and immunodeficiency syndrome 1 | 5 | Aug 3, 2022 |
| Gaucher disease | 3 | Dec 21, 2022 |
| Gaucher disease type I | 3 | Apr 4, 2023 |
| Gaze palsy, familial horizontal, with progressive scoliosis 1 | 3 | Dec 21, 2022 |
| Geleophysic dysplasia 1 | 2 | Dec 21, 2022 |
| Generalized epilepsy with febrile seizures plus, type 2 | 8 | Dec 21, 2022 |
| Genitopatellar syndrome | 1 | Dec 21, 2022 |
| Genitourinary and/or brain malformation syndrome | 2 | Dec 21, 2022 |
| Gillespie syndrome | 1 | Dec 21, 2022 |
| Glaucoma 3A | 2 | Dec 21, 2022 |
| Global developmental delay with or without impaired intellectual development | 1 | Dec 21, 2022 |
| Global developmental delay with speech and behavioral abnormalities | 2 | Dec 21, 2022 |
| Global proximal tubulopathy | 2 | Sep 16, 2020 |
| Glomerulopathy with fibronectin deposits 2 | 3 | Aug 3, 2022 |
| Glomuvenous malformation | 2 | Dec 21, 2022 |
| Glucocorticoid deficiency with achalasia | 1 | Dec 21, 2022 |
| Glucose-6-phosphate transport defect | 2 | Aug 3, 2022 |
| Glutamate formiminotransferase deficiency | 1 | Dec 21, 2022 |
| Glutamate pyruvate transaminase 2 deficiency | 4 | Dec 21, 2022 |
| Glutaric aciduria, type 1 | 2 | Dec 21, 2022 |
| Glycogen storage disease IXa1 | 1 | Dec 21, 2022 |
| Glycogen storage disease IXd | 1 | Dec 21, 2022 |
| Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form | 1 | Aug 3, 2022 |
| Glycogen storage disease due to muscle beta-enolase deficiency | 2 | Dec 21, 2022 |
| Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | 3 | Dec 21, 2022 |
| Glycogen storage disease type III | 3 | Apr 4, 2023 |
| Glycogen storage disease, type II | 6 | Dec 21, 2022 |
| Glycogen storage disease, type IV | 1 | Dec 21, 2022 |
| Glycogen storage disease, type V | 4 | Dec 21, 2022 |
| Glycogen storage disorder due to hepatic glycogen synthase deficiency | 4 | Dec 21, 2022 |
| Glycosylphosphatidylinositol biosynthesis defect 15 | 2 | Dec 21, 2022 |
| Gorlin syndrome | 6 | Dec 21, 2022 |
| Granulomatous disease, chronic, X-linked | 2 | Dec 21, 2022 |
| Greig cephalopolysyndactyly syndrome | 3 | Dec 21, 2022 |
| Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | 3 | Dec 21, 2022 |
| HSD10 mitochondrial disease | 1 | Oct 1, 2019 |
| HUWE1-related neurodevelopmental disorder | 1 | Oct 1, 2019 |
| Hajdu-Cheney syndrome | 3 | Dec 21, 2022 |
| Hamartoma of hypothalamus | 1 | Dec 21, 2022 |
| Hand-foot-genital syndrome | 1 | Dec 21, 2022 |
| Hao-Fountain syndrome | 1 | Dec 21, 2022 |
| Hearing loss, X-linked 6 | 1 | Aug 3, 2022 |
| Hearing loss, autosomal recessive | 1 | Dec 21, 2022 |
| Hearing loss, autosomal recessive 100 | 1 | Aug 3, 2022 |
| Hearing loss, autosomal recessive 110 | 1 | Aug 15, 2019 |
| Hearing loss, autosomal recessive 57 | 4 | Dec 21, 2022 |
| Hecht syndrome | 2 | Dec 21, 2022 |
| Hemochromatosis type 1 | 1 | Dec 21, 2022 |
| Hemochromatosis type 2A | 2 | Dec 21, 2022 |
| Hemochromatosis type 3 | 1 | Dec 21, 2022 |
| Hemorrhage, intracerebral, susceptibility to | 1 | Dec 21, 2022 |
| Hereditary ATTR amyloidosis | 1 | Aug 3, 2022 |
| Hereditary arterial and articular multiple calcification syndrome | 1 | Dec 21, 2022 |
| Hereditary cancer-predisposing syndrome | 2 | Dec 21, 2022 |
| Hereditary factor IX deficiency disease | 1 | Dec 21, 2022 |
| Hereditary factor VIII deficiency disease | 8 | Dec 21, 2022 |
| Hereditary fructosuria | 3 | Dec 21, 2022 |
| Hereditary sensory and autonomic neuropathy type 6 | 1 | Dec 21, 2022 |
| Hereditary sensory and autonomic neuropathy type 7 | 1 | Dec 21, 2022 |
| Hereditary sensory neuropathy-deafness-dementia syndrome | 3 | Dec 21, 2022 |
| Hereditary spastic paraplegia 10 | 1 | Dec 21, 2022 |
| Hereditary spastic paraplegia 11 | 11 | Dec 21, 2022 |
| Hereditary spastic paraplegia 15 | 8 | Dec 21, 2022 |
| Hereditary spastic paraplegia 28 | 1 | Aug 3, 2022 |
| Hereditary spastic paraplegia 31 | 1 | Dec 21, 2022 |
| Hereditary spastic paraplegia 35 | 2 | Dec 21, 2022 |
| Hereditary spastic paraplegia 3A | 3 | Dec 21, 2022 |
| Hereditary spastic paraplegia 4 | 15 | Dec 21, 2022 |
| Hereditary spastic paraplegia 47 | 2 | Aug 3, 2022 |
| Hereditary spastic paraplegia 48 | 4 | Dec 21, 2022 |
| Hereditary spastic paraplegia 50 | 1 | Aug 3, 2022 |
| Hereditary spastic paraplegia 53 | 1 | Dec 21, 2022 |
| Hereditary spastic paraplegia 54 | 1 | Aug 3, 2022 |
| Hereditary spastic paraplegia 56 | 2 | Dec 21, 2022 |
| Hereditary spastic paraplegia 5A | 1 | Dec 21, 2022 |
| Hereditary spastic paraplegia 6 | 1 | Dec 21, 2022 |
| Hereditary spastic paraplegia 7 | 1 | Dec 21, 2022 |
| Hereditary spastic paraplegia 73 | 1 | Aug 3, 2022 |
| Hereditary spastic paraplegia 74 | 2 | Dec 21, 2022 |
| Hereditary spherocytosis type 2 | 1 | Oct 1, 2019 |
| Hereditary xanthinuria type 1 | 1 | Aug 3, 2022 |
| Hermansky-Pudlak syndrome 5 | 2 | Dec 21, 2022 |
| Heterotaxy, visceral, 1, X-linked | 4 | Apr 4, 2023 |
| Heterotaxy, visceral, 8, autosomal | 2 | Dec 21, 2022 |
| Heterotopia, periventricular, X-linked dominant | 1 | Dec 21, 2022 |
| Hidrotic ectodermal dysplasia syndrome | 1 | Aug 3, 2022 |
| Hirschsprung disease, susceptibility to, 1 | 2 | Dec 21, 2022 |
| Histiocytic medullary reticulosis | 1 | Apr 4, 2023 |
| Hogue-Janssens syndrome 1 | 4 | Dec 21, 2022 |
| Holocarboxylase synthetase deficiency | 2 | Dec 21, 2022 |
| Holoprosencephaly 11 | 2 | Dec 21, 2022 |
| Holoprosencephaly 3 | 2 | Apr 4, 2023 |
| Holoprosencephaly 4 | 1 | Dec 21, 2022 |
| Holoprosencephaly 5 | 2 | Dec 21, 2022 |
| Holoprosencephaly 9 | 1 | Aug 3, 2022 |
| Holt-Oram syndrome | 4 | Dec 21, 2022 |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 6 | Apr 4, 2023 |
| Houge-Janssens syndrome 2 | 1 | Aug 3, 2022 |
| Houge-Janssens syndrome 3 | 1 | Dec 21, 2022 |
| Hydrocephalus, nonsyndromic, autosomal recessive 2 | 2 | Dec 21, 2022 |
| Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome | 2 | Dec 21, 2022 |
| Hyper-IgM syndrome type 1 | 1 | Aug 3, 2022 |
| Hyperaldosteronism, familial, type IV | 1 | Dec 21, 2022 |
| Hypercalcemia, infantile, 2 | 1 | Aug 30, 2020 |
| Hypercholesterolemia, autosomal dominant, 3 | 1 | Dec 21, 2022 |
| Hypercholesterolemia, familial, 1 | 5 | Dec 21, 2022 |
| Hyperinsulinemic hypoglycemia, familial, 1 | 1 | Apr 4, 2023 |
| Hyperinsulinemic hypoglycemia, familial, 4 | 2 | Dec 21, 2022 |
| Hyperphosphatasia with intellectual disability syndrome 1 | 1 | Dec 21, 2022 |
| Hyperphosphatasia with intellectual disability syndrome 2 | 1 | Dec 21, 2022 |
| Hyperphosphatasia with intellectual disability syndrome 3 | 1 | Dec 21, 2022 |
| Hyperphosphatasia with intellectual disability syndrome 4 | 2 | Dec 21, 2022 |
| Hyperphosphatasia with intellectual disability syndrome 5 | 2 | Dec 21, 2022 |
| Hypertrichotic osteochondrodysplasia Cantu type | 3 | Dec 21, 2022 |
| Hypertrophic cardiomyopathy | 8 | Dec 21, 2022 |
| Hypertrophic cardiomyopathy 1 | 7 | Dec 21, 2022 |
| Hypertrophic cardiomyopathy 10 | 2 | Dec 21, 2022 |
| Hypertrophic cardiomyopathy 11 | 1 | Dec 21, 2022 |
| Hypertrophic cardiomyopathy 12 | 1 | Dec 21, 2022 |
| Hypertrophic cardiomyopathy 14 | 3 | Dec 21, 2022 |
| Hypertrophic cardiomyopathy 17 | 4 | Dec 21, 2022 |
| Hypertrophic cardiomyopathy 19 | 1 | Dec 21, 2022 |
| Hypertrophic cardiomyopathy 2 | 8 | Apr 4, 2023 |
| Hypertrophic cardiomyopathy 26 | 27 | Dec 21, 2022 |
| Hypertrophic cardiomyopathy 3 | 5 | Dec 21, 2022 |
| Hypertrophic cardiomyopathy 4 | 1 | Dec 21, 2022 |
| Hypertrophic cardiomyopathy 6 | 1 | Aug 3, 2022 |
| Hypertrophic cardiomyopathy 7 | 1 | Dec 21, 2022 |
| Hypertrophic cardiomyopathy 9 | 1 | Nov 9, 2017 |
| Hyperuricemic nephropathy, familial juvenile type 4 | 1 | Dec 21, 2022 |
| Hypogonadism with anosmia | 1 | Dec 21, 2022 |
| Hypogonadotropic hypogonadism 14 with or without anosmia | 2 | Dec 21, 2022 |
| Hypogonadotropic hypogonadism 2 with or without anosmia | 1 | Dec 21, 2022 |
| Hypogonadotropic hypogonadism 3 with or without anosmia | 2 | Apr 4, 2023 |
| Hypogonadotropic hypogonadism 7 with or without anosmia | 3 | Dec 21, 2022 |
| Hypohidrotic X-linked ectodermal dysplasia | 1 | Dec 21, 2022 |
| Hypomyelinating leukodystrophy 11 | 1 | Aug 3, 2022 |
| Hypomyelinating leukodystrophy 12 | 2 | Dec 21, 2022 |
| Hypomyelinating leukodystrophy 6 | 1 | Dec 21, 2022 |
| Hypomyelinating leukodystrophy 9 | 3 | Dec 21, 2022 |
| Hypomyelination with brain stem and spinal cord involvement and leg spasticity | 2 | Nov 9, 2017 |
| Hypoparathyroidism, deafness, renal disease syndrome | 6 | Dec 21, 2022 |
| Hypopituitarism | 1 | Apr 4, 2023 |
| Hypoplastic left heart syndrome | 1 | Dec 21, 2022 |
| Hypospadias 2, X-linked | 1 | Dec 21, 2022 |
| Hypotonia with lactic acidemia and hyperammonemia | 1 | Dec 21, 2022 |
| Hypotonia, ataxia, and delayed development syndrome | 3 | Dec 21, 2022 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 6 | Dec 21, 2022 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 1 | Dec 21, 2022 |
| Hypotrichosis 14 | 1 | Dec 21, 2022 |
| Hypotrichosis 6 | 1 | Dec 21, 2022 |
| Hypotrichosis 8 | 1 | Aug 3, 2022 |
| Ichthyosis vulgaris | 1 | Apr 4, 2023 |
| Idiopathic basal ganglia calcification 1 | 4 | Dec 21, 2022 |
| Imerslund-Grasbeck syndrome type 1 | 5 | Dec 21, 2022 |
| Immunodeficiency | 1 | Aug 3, 2022 |
| Immunodeficiency 31B | 1 | Nov 1, 2016 |
| Immunodeficiency 75 | 1 | Aug 3, 2022 |
| Immunodeficiency 78 with autoimmunity and developmental delay | 1 | Aug 3, 2022 |
| Immunodeficiency, common variable, 12 | 3 | Dec 21, 2022 |
| Immunodeficiency, developmental delay, and hypohomocysteinemia | 1 | Dec 21, 2022 |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | 1 | Dec 21, 2022 |
| Infantile GM1 gangliosidosis | 5 | Apr 4, 2023 |
| Infantile cerebellar-retinal degeneration | 2 | Dec 21, 2022 |
| Infantile liver failure syndrome 1 | 2 | Aug 3, 2022 |
| Infantile liver failure syndrome 2 | 4 | Apr 4, 2023 |
| Infantile nephronophthisis | 2 | Apr 4, 2023 |
| Infantile-onset ascending hereditary spastic paralysis | 2 | Dec 21, 2022 |
| Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 1 | Dec 21, 2022 |
| Intellectual developmental disorder 61 | 2 | Dec 21, 2022 |
| Intellectual developmental disorder 62 | 5 | Dec 21, 2022 |
| Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | 1 | Dec 21, 2022 |
| Intellectual developmental disorder with autism and macrocephaly | 7 | Dec 21, 2022 |
| Intellectual developmental disorder with autistic features and language delay, with or without seizures | 3 | Dec 21, 2022 |
| Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures | 1 | Dec 21, 2022 |
| Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 2 | Dec 21, 2022 |
| Intellectual developmental disorder with dysmorphic facies and ptosis | 9 | Dec 21, 2022 |
| Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 1 | Dec 21, 2022 |
| Intellectual developmental disorder with hypotonia and behavioral abnormalities | 2 | Dec 21, 2022 |
| Intellectual developmental disorder with impaired language and dysmorphic facies | 1 | Aug 3, 2022 |
| Intellectual developmental disorder with macrocephaly, seizures, and speech delay | 1 | Dec 21, 2022 |
| Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies | 1 | Dec 21, 2022 |
| Intellectual developmental disorder with seizures and language delay | 7 | Apr 4, 2023 |
| Intellectual developmental disorder with short stature and behavioral abnormalities | 2 | Dec 21, 2022 |
| Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | 3 | Dec 21, 2022 |
| Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities | 4 | Dec 21, 2022 |
| Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | 2 | Dec 21, 2022 |
| Intellectual developmental disorder, autosomal dominant 64 | 8 | Dec 21, 2022 |
| Intellectual developmental disorder, autosomal recessive 72 | 1 | Dec 21, 2022 |
| Intellectual disability, FRA12A type | 1 | Dec 21, 2022 |
| Intellectual disability, X-linked 1 | 9 | Dec 21, 2022 |
| Intellectual disability, X-linked 102 | 3 | Apr 4, 2023 |
| Intellectual disability, X-linked 104 | 1 | Dec 21, 2022 |
| Intellectual disability, X-linked 105 | 1 | Dec 21, 2022 |
| Intellectual disability, X-linked 106 | 1 | Dec 21, 2022 |
| Intellectual disability, X-linked 30 | 1 | Aug 3, 2022 |
| Intellectual disability, X-linked 49 | 2 | Dec 21, 2022 |
| Intellectual disability, X-linked 61 | 1 | Apr 4, 2023 |
| Intellectual disability, X-linked 63 | 1 | Dec 21, 2022 |
| Intellectual disability, X-linked 90 | 3 | Dec 21, 2022 |
| Intellectual disability, X-linked 93 | 2 | Dec 21, 2022 |
| Intellectual disability, X-linked 96 | 1 | Aug 3, 2022 |
| Intellectual disability, X-linked 99 | 1 | Aug 3, 2022 |
| Intellectual disability, X-linked 99, syndromic, female-restricted | 2 | Aug 3, 2022 |
| Intellectual disability, X-linked syndromic, Turner type | 11 | Dec 21, 2022 |
| Intellectual disability, X-linked, syndromic 33 | 3 | Dec 21, 2022 |
| Intellectual disability, X-linked, syndromic, Bain type | 1 | Dec 21, 2022 |
| Intellectual disability, X-linked, syndromic, Houge type | 1 | Dec 21, 2022 |
| Intellectual disability, X-linked, with or without seizures, arx-related | 1 | Aug 3, 2022 |
| Intellectual disability, X-linked, with panhypopituitarism | 1 | Dec 21, 2022 |
| Intellectual disability, autosomal dominant | 1 | Aug 3, 2022 |
| Intellectual disability, autosomal dominant 1 | 4 | Dec 21, 2022 |
| Intellectual disability, autosomal dominant 11 | 1 | Dec 21, 2022 |
| Intellectual disability, autosomal dominant 13 | 4 | Dec 21, 2022 |
| Intellectual disability, autosomal dominant 14 | 4 | Dec 21, 2022 |
| Intellectual disability, autosomal dominant 15 | 2 | Dec 21, 2022 |
| Intellectual disability, autosomal dominant 16 | 4 | Dec 21, 2022 |
| Intellectual disability, autosomal dominant 20 | 3 | Dec 21, 2022 |
| Intellectual disability, autosomal dominant 22 | 4 | Dec 21, 2022 |
| Intellectual disability, autosomal dominant 27 | 2 | Dec 21, 2022 |
| Intellectual disability, autosomal dominant 29 | 3 | Dec 21, 2022 |
| Intellectual disability, autosomal dominant 38 | 3 | Dec 21, 2022 |
| Intellectual disability, autosomal dominant 39 | 7 | Dec 21, 2022 |
| Intellectual disability, autosomal dominant 41 | 3 | Dec 21, 2022 |
| Intellectual disability, autosomal dominant 42 | 4 | Apr 4, 2023 |
| Intellectual disability, autosomal dominant 43 | 4 | Dec 21, 2022 |
| Intellectual disability, autosomal dominant 45 | 9 | Dec 21, 2022 |
| Intellectual disability, autosomal dominant 46 | 1 | Apr 4, 2023 |
| Intellectual disability, autosomal dominant 47 | 3 | Dec 21, 2022 |
| Intellectual disability, autosomal dominant 48 | 1 | Aug 3, 2022 |
| Intellectual disability, autosomal dominant 5 | 9 | Dec 21, 2022 |
| Intellectual disability, autosomal dominant 50 | 2 | Dec 21, 2022 |
| Intellectual disability, autosomal dominant 51 | 2 | Dec 21, 2022 |
| Intellectual disability, autosomal dominant 52 | 13 | Dec 21, 2022 |
| Intellectual disability, autosomal dominant 53 | 2 | Dec 21, 2022 |
| Intellectual disability, autosomal dominant 54 | 3 | Dec 21, 2022 |
| Intellectual disability, autosomal dominant 55, with seizures | 2 | Dec 21, 2022 |
| Intellectual disability, autosomal dominant 56 | 3 | Dec 21, 2022 |
| Intellectual disability, autosomal dominant 57 | 3 | Dec 21, 2022 |
| Intellectual disability, autosomal dominant 6 | 2 | Dec 21, 2022 |
| Intellectual disability, autosomal dominant 8 | 1 | Apr 4, 2023 |
| Intellectual disability, autosomal recessive 13 | 5 | Dec 21, 2022 |
| Intellectual disability, autosomal recessive 18 | 1 | Aug 3, 2022 |
| Intellectual disability, autosomal recessive 27 | 2 | Dec 21, 2022 |
| Intellectual disability, autosomal recessive 44 | 3 | Dec 21, 2022 |
| Intellectual disability, autosomal recessive 47 | 3 | Dec 21, 2022 |
| Intellectual disability, autosomal recessive 53 | 8 | Dec 21, 2022 |
| Intellectual disability, autosomal recessive 57 | 2 | Dec 21, 2022 |
| Intellectual disability, autosomal recessive 58 | 2 | Dec 21, 2022 |
| Intellectual disability, autosomal recessive 65 | 1 | Apr 4, 2023 |
| Intellectual disability, autosomal recessive 66 | 1 | Dec 21, 2022 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 8 | Dec 21, 2022 |
| Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome | 5 | Dec 21, 2022 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 2 | Dec 21, 2022 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 14 | Dec 21, 2022 |
| Intellectual disability-strabismus syndrome | 1 | Aug 3, 2022 |
| Interstitial lung disease due to ABCA3 deficiency | 3 | Dec 21, 2022 |
| Intestinal hypomagnesemia 1 | 1 | Apr 4, 2023 |
| Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency | 1 | Dec 21, 2022 |
| Isolated congenital megalocornea | 1 | Aug 3, 2022 |
| Isolated lutropin deficiency | 1 | Dec 21, 2022 |
| Jackson-Weiss syndrome | 1 | Dec 21, 2022 |
| Jawad syndrome | 1 | Dec 21, 2022 |
| Johanson-Blizzard syndrome | 1 | Dec 21, 2022 |
| Joubert syndrome 1 | 2 | Dec 21, 2022 |
| Joubert syndrome 10 | 1 | Dec 21, 2022 |
| Joubert syndrome 13 | 2 | Dec 21, 2022 |
| Joubert syndrome 14 | 2 | Aug 3, 2022 |
| Joubert syndrome 16 | 1 | Dec 21, 2022 |
| Joubert syndrome 17 | 6 | Dec 21, 2022 |
| Joubert syndrome 18 | 3 | Dec 21, 2022 |
| Joubert syndrome 23 | 3 | Dec 21, 2022 |
| Joubert syndrome 25 | 2 | Dec 21, 2022 |
| Joubert syndrome 3 | 4 | Dec 21, 2022 |
| Joubert syndrome 30 | 2 | Dec 21, 2022 |
| Joubert syndrome 38 | 3 | Apr 4, 2023 |
| Joubert syndrome 5 | 1 | Aug 3, 2022 |
| Joubert syndrome 6 | 2 | Aug 30, 2020 |
| Joubert syndrome 7 | 2 | Dec 21, 2022 |
| Joubert syndrome 9 | 7 | Dec 21, 2022 |
| Junctional epidermolysis bullosa | 1 | Aug 3, 2022 |
| Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 1 | Apr 4, 2023 |
| Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 3 | Dec 21, 2022 |
| Juvenile retinoschisis | 2 | Dec 21, 2022 |
| KBG syndrome | 27 | Dec 21, 2022 |
| KCNH1 associated disorder | 2 | Dec 21, 2022 |
| Kabuki syndrome 1 | 28 | Apr 4, 2023 |
| Kabuki syndrome 2 | 8 | Dec 21, 2022 |
| Kallikrein, decreased urinary activity of | 1 | Apr 4, 2023 |
| Kartagener syndrome | 2 | Dec 21, 2022 |
| Karyomegalic interstitial nephritis | 4 | Dec 21, 2022 |
| Keipert syndrome | 1 | Dec 21, 2022 |
| Khan-Khan-Katsanis syndrome | 1 | Dec 21, 2022 |
| Kleefstra syndrome 1 | 7 | Dec 21, 2022 |
| Kleefstra syndrome 2 | 12 | Dec 21, 2022 |
| Kohlschutter-Tonz syndrome-like | 1 | Dec 21, 2022 |
| Koolen-de Vries syndrome | 3 | Dec 21, 2022 |
| Kugelberg-Welander disease | 2 | Dec 21, 2022 |
| L-2-hydroxyglutaric aciduria | 1 | Dec 21, 2022 |
| LAMA2-related muscular dystrophy | 3 | Dec 21, 2022 |
| Lamb-Shaffer syndrome | 2 | Dec 21, 2022 |
| Landau-Kleffner syndrome | 3 | Dec 21, 2022 |
| Large congenital melanocytic nevus | 1 | Dec 21, 2022 |
| Lateral meningocele syndrome | 1 | Dec 21, 2022 |
| Laurence-Moon syndrome | 1 | Dec 21, 2022 |
| Leber congenital amaurosis 10 | 2 | Dec 21, 2022 |
| Leber congenital amaurosis 3 | 2 | Dec 21, 2022 |
| Leber congenital amaurosis 6 | 1 | Aug 3, 2022 |
| Leber optic atrophy | 1 | Apr 4, 2023 |
| Left ventricular noncompaction | 1 | Dec 21, 2022 |
| Left ventricular noncompaction 1 | 1 | Aug 3, 2022 |
| Left ventricular noncompaction 7 | 1 | Aug 3, 2022 |
| Left ventricular noncompaction 8 | 3 | Dec 21, 2022 |
| Legius syndrome | 2 | Dec 21, 2022 |
| Leigh syndrome | 5 | Dec 21, 2022 |
| Lesch-Nyhan syndrome | 1 | Dec 21, 2022 |
| Lethal congenital contracture syndrome 11 | 1 | Oct 1, 2019 |
| Lethal congenital glycogen storage disease of heart | 1 | Dec 21, 2022 |
| Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | 1 | Dec 21, 2022 |
| Leukodystrophy, hypomyelinating, 15 | 2 | Dec 21, 2022 |
| Leukodystrophy, hypomyelinating, 16 | 1 | Dec 21, 2022 |
| Leukodystrophy, hypomyelinating, 19, transient infantile | 1 | Aug 3, 2022 |
| Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | 3 | Dec 21, 2022 |
| Leukoencephalopathy, progressive, with ovarian failure | 2 | Aug 3, 2022 |
| Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | 3 | Dec 21, 2022 |
| Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome | 2 | Dec 21, 2022 |
| Levy-Hollister syndrome | 1 | Dec 21, 2022 |
| Li-Ghorbani-Weisz-Hubshman syndrome | 1 | Aug 3, 2022 |
| Linear skin defects with multiple congenital anomalies 3 | 1 | Aug 3, 2022 |
| Lipoyl transferase 1 deficiency | 2 | Dec 21, 2022 |
| Lissencephaly 10 | 1 | Dec 21, 2022 |
| Lissencephaly 4 | 2 | Dec 21, 2022 |
| Lissencephaly 9 with complex brainstem malformation | 1 | Aug 3, 2022 |
| Lissencephaly due to TUBA1A mutation | 6 | Dec 21, 2022 |
| Lissencephaly type 1 due to doublecortin gene mutation | 2 | Dec 21, 2022 |
| Loeys-Dietz syndrome 1 | 8 | Dec 21, 2022 |
| Loeys-Dietz syndrome 2 | 3 | Dec 21, 2022 |
| Loeys-Dietz syndrome 4 | 4 | Dec 21, 2022 |
| Loeys-Dietz syndrome 6 | 2 | Dec 21, 2022 |
| Long QT syndrome 1 | 3 | Dec 21, 2022 |
| Long QT syndrome 10 | 1 | Dec 21, 2022 |
| Long QT syndrome 11 | 1 | Aug 3, 2022 |
| Long QT syndrome 13 | 1 | Dec 21, 2022 |
| Long QT syndrome 15 | 1 | Dec 21, 2022 |
| Long QT syndrome 16 | 1 | Dec 21, 2022 |
| Long QT syndrome 2 | 30 | Dec 21, 2022 |
| Long QT syndrome 3 | 2 | Apr 4, 2023 |
| Long QT syndrome 6 | 3 | Dec 21, 2022 |
| Long qt syndrome 8 | 10 | Dec 21, 2022 |
| Loricrin keratoderma | 1 | Dec 21, 2022 |
| Lowe syndrome | 3 | Dec 21, 2022 |
| Luscan-Lumish syndrome | 8 | Dec 21, 2022 |
| Lymphatic malformation 4 | 1 | Dec 21, 2022 |
| Lymphatic malformation 6 | 1 | Apr 4, 2023 |
| Lymphatic malformation 7 | 1 | Dec 21, 2022 |
| Lynch syndrome 5 | 1 | Aug 3, 2022 |
| Lysosomal acid lipase deficiency | 3 | Apr 4, 2023 |
| MASA syndrome | 1 | Aug 3, 2022 |
| MED12-related intellectual disability syndrome | 3 | Aug 3, 2022 |
| MIRAGE syndrome | 1 | Dec 21, 2022 |
| MOGS-congenital disorder of glycosylation | 1 | Apr 4, 2023 |
| MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA | 1 | Dec 21, 2022 |
| MYPN-related myopathy | 1 | Dec 21, 2022 |
| Macrocephaly, acquired, with impaired intellectual development | 5 | Dec 21, 2022 |
| Macrocephaly, dysmorphic facies, and psychomotor retardation | 2 | Dec 21, 2022 |
| Macrocephaly-autism syndrome | 4 | Dec 21, 2022 |
| Macrocephaly-developmental delay syndrome | 3 | Dec 21, 2022 |
| Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 8 | Dec 21, 2022 |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 11 | Apr 4, 2023 |
| Malan overgrowth syndrome | 2 | Dec 21, 2022 |
| Mandibular hypoplasia-deafness-progeroid syndrome | 1 | Dec 21, 2022 |
| Mandibulofacial dysostosis-microcephaly syndrome | 5 | Dec 21, 2022 |
| Maple syrup urine disease | 2 | Dec 21, 2022 |
| Marfan syndrome | 25 | Dec 21, 2022 |
| Marshall syndrome | 1 | Dec 21, 2022 |
| Martsolf syndrome 1 | 2 | Dec 21, 2022 |
| Mast syndrome | 1 | Dec 21, 2022 |
| Maturity-onset diabetes of the young type 3 | 2 | Dec 21, 2022 |
| Meckel syndrome, type 6 | 2 | Dec 21, 2022 |
| Meckel-Gruber syndrome | 1 | Dec 21, 2022 |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 4 | Dec 21, 2022 |
| Meester-Loeys syndrome | 2 | Dec 21, 2022 |
| Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | 3 | Dec 21, 2022 |
| Megalencephalic leukoencephalopathy with subcortical cysts 1 | 2 | Dec 21, 2022 |
| Megalencephaly-capillary malformation-polymicrogyria syndrome | 3 | Apr 4, 2023 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 1 | Dec 21, 2022 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | 1 | Aug 3, 2022 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | 2 | Dec 21, 2022 |
| Megalocornea | 1 | Nov 1, 2016 |
| Melnick-Fraser syndrome | 1 | Dec 21, 2022 |
| Menke-Hennekam syndrome 2 | 1 | Aug 3, 2022 |
| Menkes kinky-hair syndrome | 7 | Dec 21, 2022 |
| Merosin deficient congenital muscular dystrophy | 2 | Apr 4, 2023 |
| Metachromatic leukodystrophy | 5 | Dec 21, 2022 |
| Metachromatic leukodystrophy, juvenile type | 1 | Dec 21, 2022 |
| Metaphyseal chondrodysplasia, McKusick type | 2 | Apr 4, 2023 |
| Metaphyseal chondrodysplasia, Schmid type | 1 | Aug 3, 2022 |
| Methylmalonate semialdehyde dehydrogenase deficiency | 1 | Aug 3, 2022 |
| Methylmalonic acidemia with homocystinuria, type cblX | 3 | Dec 21, 2022 |
| Microcephalic osteodysplastic primordial dwarfism type II | 1 | Dec 21, 2022 |
| Microcephalic primordial dwarfism due to RTTN deficiency | 6 | Apr 4, 2023 |
| Microcephalic primordial dwarfism due to ZNF335 deficiency | 4 | Dec 21, 2022 |
| Microcephalic primordial dwarfism, Alazami type | 1 | Dec 21, 2022 |
| Microcephaly 1, primary, autosomal recessive | 4 | Dec 21, 2022 |
| Microcephaly 13, primary, autosomal recessive | 1 | Dec 21, 2022 |
| Microcephaly 15, primary, autosomal recessive | 2 | Dec 21, 2022 |
| Microcephaly 17, primary, autosomal recessive | 2 | Dec 21, 2022 |
| Microcephaly 18, primary, autosomal dominant | 4 | Dec 21, 2022 |
| Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 6 | Dec 21, 2022 |
| Microcephaly 20, primary, autosomal recessive | 2 | Dec 21, 2022 |
| Microcephaly 5, primary, autosomal recessive | 13 | Dec 21, 2022 |
| Microcephaly 8, primary, autosomal recessive | 1 | Dec 21, 2022 |
| Microcephaly and chorioretinopathy 1 | 6 | Dec 21, 2022 |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 4 | Dec 21, 2022 |
| Microcephaly, developmental delay, and brittle hair syndrome | 2 | Dec 21, 2022 |
| Microcephaly, growth deficiency, seizures, and brain malformations | 1 | Dec 21, 2022 |
| Microcephaly, growth restriction, and increased sister chromatid exchange 2 | 3 | Dec 21, 2022 |
| Microcephaly, seizures, and developmental delay | 2 | Dec 21, 2022 |
| Microcephaly, short stature, and limb abnormalities | 2 | Dec 21, 2022 |
| Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | 3 | Dec 21, 2022 |
| Microcephaly-thin corpus callosum-intellectual disability syndrome | 3 | Dec 21, 2022 |
| Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 9 | Dec 21, 2022 |
| Microphthalmia, isolated, with coloboma 9 | 3 | Apr 4, 2023 |
| Microphthalmia, syndromic 12 | 1 | Oct 1, 2019 |
| Migraine, familial hemiplegic, 1 | 1 | Dec 21, 2022 |
| Migraine, with or without aura, susceptibility to, 13 | 1 | Dec 21, 2022 |
| Mitochondrial DNA depletion syndrome 1 | 4 | Dec 21, 2022 |
| Mitochondrial DNA depletion syndrome 13 | 3 | Dec 21, 2022 |
| Mitochondrial DNA depletion syndrome 20 (mngie type) | 1 | Aug 3, 2022 |
| Mitochondrial DNA depletion syndrome 9 | 1 | Dec 21, 2022 |
| Mitochondrial DNA depletion syndrome, myopathic form | 2 | Dec 21, 2022 |
| Mitochondrial complex 1 deficiency, nuclear type 10 | 1 | Aug 3, 2022 |
| Mitochondrial complex 1 deficiency, nuclear type 11 | 1 | Aug 3, 2022 |
| Mitochondrial complex 1 deficiency, nuclear type 14 | 1 | Aug 3, 2022 |
| Mitochondrial complex 1 deficiency, nuclear type 16 | 1 | Oct 1, 2019 |
| Mitochondrial complex 1 deficiency, nuclear type 17 | 2 | Dec 21, 2022 |
| Mitochondrial complex 1 deficiency, nuclear type 19 | 3 | Dec 21, 2022 |
| Mitochondrial complex 1 deficiency, nuclear type 2 | 1 | Dec 21, 2022 |
| Mitochondrial complex 1 deficiency, nuclear type 21 | 1 | Dec 21, 2022 |
| Mitochondrial complex 1 deficiency, nuclear type 22 | 2 | Dec 21, 2022 |
| Mitochondrial complex 1 deficiency, nuclear type 25 | 1 | Aug 3, 2022 |
| Mitochondrial complex 1 deficiency, nuclear type 26 | 3 | Dec 21, 2022 |
| Mitochondrial complex 1 deficiency, nuclear type 3 | 2 | Dec 21, 2022 |
| Mitochondrial complex 1 deficiency, nuclear type 34 | 1 | Dec 21, 2022 |
| Mitochondrial complex 1 deficiency, nuclear type 4 | 2 | Dec 21, 2022 |
| Mitochondrial complex 1 deficiency, nuclear type 5 | 1 | Dec 21, 2022 |
| Mitochondrial complex 1 deficiency, nuclear type 7 | 1 | Dec 21, 2022 |
| Mitochondrial complex 2 deficiency, nuclear type 2 | 2 | Dec 21, 2022 |
| Mitochondrial complex I deficiency, nuclear type 1 | 1 | Apr 4, 2023 |
| Mitochondrial complex III deficiency nuclear type 1 | 3 | Dec 21, 2022 |
| Mitochondrial complex IV deficiency, nuclear type 1 | 2 | Apr 4, 2023 |
| Mitochondrial disease | 1 | Apr 4, 2023 |
| Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | 1 | Aug 3, 2022 |
| Mitochondrial myopathy-lactic acidosis-deafness syndrome | 3 | Dec 21, 2022 |
| Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | 10 | Dec 21, 2022 |
| Monosomy 7 myelodysplasia and leukemia syndrome 2 | 3 | Dec 21, 2022 |
| Mosaic variegated aneuploidy syndrome 1 | 2 | Dec 21, 2022 |
| Mosaic variegated aneuploidy syndrome 3 | 2 | Dec 21, 2022 |
| Mowat-Wilson syndrome | 3 | Dec 21, 2022 |
| Moyamoya disease 2 | 1 | Oct 1, 2019 |
| Mucopolysaccharidosis type 1 | 1 | Dec 21, 2022 |
| Mucopolysaccharidosis type 6 | 1 | Dec 21, 2022 |
| Mucopolysaccharidosis type 7 | 2 | Dec 21, 2022 |
| Mucopolysaccharidosis, MPS-II | 2 | Dec 21, 2022 |
| Mucopolysaccharidosis, MPS-III-A | 4 | Dec 21, 2022 |
| Mucopolysaccharidosis, MPS-III-C | 2 | Dec 21, 2022 |
| Muenke syndrome | 1 | Apr 4, 2023 |
| Mullegama-Klein-Martinez syndrome | 1 | Dec 21, 2022 |
| Multiple acyl-CoA dehydrogenase deficiency | 6 | Dec 21, 2022 |
| Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type | 1 | Aug 3, 2022 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 4 | Aug 3, 2022 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 3 | Dec 21, 2022 |
| Multiple congenital anomalies-neurodevelopmental syndrome, X-linked | 1 | Aug 3, 2022 |
| Multiple congenital anomalies/dysmorphic syndrome | 1 | Aug 3, 2022 |
| Multiple endocrine neoplasia, type 1 | 2 | Dec 21, 2022 |
| Multiple gastrointestinal atresias | 1 | Nov 1, 2016 |
| Multiple mitochondrial dysfunctions syndrome 2 | 1 | Oct 1, 2019 |
| Multiple mitochondrial dysfunctions syndrome 3 | 1 | Dec 21, 2022 |
| Multiple mitochondrial dysfunctions syndrome 6 | 3 | Dec 21, 2022 |
| Multiple self-healing squamous epithelioma | 1 | Dec 21, 2022 |
| Multiple synostoses syndrome 3 | 1 | Dec 21, 2022 |
| Multisystemic smooth muscle dysfunction syndrome | 2 | Apr 4, 2023 |
| Muscular dystrophy, limb-girdle, autosomal recessive 23 | 1 | Dec 21, 2022 |
| Muscular dystrophy-dystroglycanopathy | 1 | Aug 3, 2022 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 1 | Dec 21, 2022 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | 2 | Dec 21, 2022 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | 2 | Dec 21, 2022 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | 1 | Aug 3, 2022 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | 2 | Apr 4, 2023 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 | 1 | Aug 3, 2022 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 | 1 | Dec 21, 2022 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 1 | Dec 21, 2022 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 | 1 | Dec 21, 2022 |
| Myasthenic syndrome, congenital, 24, presynaptic | 1 | Dec 21, 2022 |
| Myasthenic syndrome, congenital, 25, presynaptic | 1 | Dec 21, 2022 |
| Myhre syndrome | 2 | Dec 21, 2022 |
| Myoclonic-astatic epilepsy | 4 | Dec 21, 2022 |
| Myofibrillar myopathy 4 | 1 | Dec 21, 2022 |
| Myofibrillar myopathy 5 | 1 | Dec 21, 2022 |
| Myopathy caused by variation in FKTN | 2 | Dec 21, 2022 |
| Myopathy caused by variation in POMGNT1 | 2 | Dec 21, 2022 |
| Myopathy caused by variation in POMT1 | 1 | Dec 21, 2022 |
| Myopathy, centronuclear, 5 | 1 | Dec 21, 2022 |
| Myopathy, proximal, and ophthalmoplegia | 1 | Apr 4, 2023 |
| NAD(P)HX dehydratase deficiency | 2 | Dec 21, 2022 |
| Nail-patella syndrome | 2 | Dec 21, 2022 |
| Namaqualand hip dysplasia | 1 | Aug 3, 2022 |
| Nance-Horan syndrome | 1 | Dec 21, 2022 |
| Nemaline myopathy 10 | 1 | Dec 21, 2022 |
| Nemaline myopathy 2 | 11 | Apr 4, 2023 |
| Nemaline myopathy 6 | 1 | Aug 3, 2022 |
| Nemaline myopathy 8 | 1 | Dec 21, 2022 |
| Neonatal intrahepatic cholestasis due to citrin deficiency | 2 | Dec 21, 2022 |
| Neonatal severe primary hyperparathyroidism | 2 | Apr 4, 2023 |
| Neonatal-onset encephalopathy with rigidity and seizures | 3 | Dec 21, 2022 |
| Nephrogenic syndrome of inappropriate antidiuresis | 1 | Dec 21, 2022 |
| Nephronophthisis 1 | 1 | Aug 30, 2020 |
| Nephronophthisis 20 | 1 | Dec 21, 2022 |
| Nephronophthisis 3 | 3 | Dec 21, 2022 |
| Nephronophthisis 4 | 2 | Dec 21, 2022 |
| Nephropathic cystinosis | 1 | Apr 4, 2023 |
| Nephrotic syndrome | 3 | Dec 21, 2022 |
| Nephrotic syndrome 14 | 1 | Aug 3, 2022 |
| Nephrotic syndrome 15 | 1 | Dec 21, 2022 |
| Nephrotic syndrome, type 2 | 5 | Dec 21, 2022 |
| Nephrotic syndrome, type 3 | 3 | Dec 21, 2022 |
| Netherton syndrome | 4 | Apr 4, 2023 |
| Neu-Laxova syndrome 2 | 2 | Dec 21, 2022 |
| Neurodegeneration with brain iron accumulation 2B | 1 | Dec 21, 2022 |
| Neurodegeneration with brain iron accumulation 5 | 1 | Dec 21, 2022 |
| Neurodegeneration with brain iron accumulation 6 | 1 | Dec 21, 2022 |
| Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities | 2 | Dec 21, 2022 |
| Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia | 2 | Oct 1, 2019 |
| Neurodegeneration, infantile-onset, biotin-responsive | 2 | Dec 21, 2022 |
| Neurodevelopmental disorder | 72 | Apr 4, 2023 |
| Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity | 2 | Dec 21, 2022 |
| Neurodevelopmental disorder with absent language and variable seizures | 1 | Dec 21, 2022 |
| Neurodevelopmental disorder with alopecia and brain abnormalities | 1 | Aug 3, 2022 |
| Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | 2 | Dec 21, 2022 |
| Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia | 1 | Apr 4, 2023 |
| Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies | 6 | Dec 21, 2022 |
| Neurodevelopmental disorder with central and peripheral motor dysfunction | 1 | Dec 21, 2022 |
| Neurodevelopmental disorder with central hypotonia and dysmorphic facies | 2 | Dec 21, 2022 |
| Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | 3 | Dec 21, 2022 |
| Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | 3 | Dec 21, 2022 |
| Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | 6 | Dec 21, 2022 |
| Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | 3 | Dec 21, 2022 |
| Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia | 1 | Dec 21, 2022 |
| Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy | 1 | Dec 21, 2022 |
| Neurodevelopmental disorder with hearing loss and spasticity | 1 | Aug 3, 2022 |
| Neurodevelopmental disorder with hypotonia and dysmorphic facies | 1 | Dec 21, 2022 |
| Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | 1 | Dec 21, 2022 |
| Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities | 1 | Oct 1, 2019 |
| Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | 2 | Dec 21, 2022 |
| Neurodevelopmental disorder with hypotonia, seizures, and absent language | 9 | Dec 21, 2022 |
| Neurodevelopmental disorder with impaired speech and hyperkinetic movements | 1 | Dec 21, 2022 |
| Neurodevelopmental disorder with infantile epileptic spasms | 1 | Dec 21, 2022 |
| Neurodevelopmental disorder with involuntary movements | 1 | Dec 21, 2022 |
| Neurodevelopmental disorder with language impairment and behavioral abnormalities | 1 | Dec 21, 2022 |
| Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies | 3 | Dec 21, 2022 |
| Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | 1 | Dec 21, 2022 |
| Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | 1 | Dec 21, 2022 |
| Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 7 | Apr 4, 2023 |
| Neurodevelopmental disorder with or without autism or seizures | 3 | Apr 4, 2023 |
| Neurodevelopmental disorder with or without early-onset generalized epilepsy | 7 | Dec 21, 2022 |
| Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | 3 | Dec 21, 2022 |
| Neurodevelopmental disorder with poor language and loss of hand skills | 1 | Dec 21, 2022 |
| Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | 1 | Dec 21, 2022 |
| Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | 6 | Dec 21, 2022 |
| Neurodevelopmental disorder with seizures and brain atrophy | 1 | Dec 21, 2022 |
| Neurodevelopmental disorder with severe motor impairment and absent language | 1 | Dec 21, 2022 |
| Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies | 1 | Dec 21, 2022 |
| Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | 1 | Dec 21, 2022 |
| Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus | 2 | Dec 21, 2022 |
| Neurofibromatosis, type 1 | 19 | Dec 21, 2022 |
| Neurofibromatosis, type 2 | 1 | Dec 21, 2022 |
| Neurofibromatosis-Noonan syndrome | 2 | Dec 21, 2022 |
| Neurohypophyseal diabetes insipidus | 1 | Aug 3, 2022 |
| Neuromuscular disease and ocular or auditory anomalies with or without seizures | 1 | Dec 21, 2022 |
| Neuronal ceroid lipofuscinosis 1 | 3 | Apr 4, 2023 |
| Neuronal ceroid lipofuscinosis 2 | 4 | Dec 21, 2022 |
| Neuronal ceroid lipofuscinosis 3 | 2 | Dec 21, 2022 |
| Neuronal ceroid lipofuscinosis 7 | 4 | Dec 21, 2022 |
| Neuronopathy, distal hereditary motor, autosomal recessive 8 | 2 | Dec 21, 2022 |
| Neurooculocardiogenitourinary syndrome | 1 | Dec 21, 2022 |
| Neuropathy, hereditary sensory, type 1F | 1 | Aug 3, 2022 |
| Neutral lipid storage myopathy | 2 | Dec 21, 2022 |
| Nicolaides-Baraitser syndrome | 8 | Dec 21, 2022 |
| Niemann-Pick disease, type C1 | 12 | Dec 21, 2022 |
| Nizon-Isidor syndrome | 1 | Dec 21, 2022 |
| Non-ketotic hyperglycinemia | 5 | Apr 4, 2023 |
| Non-syndromic X-linked intellectual disability | 2 | Dec 21, 2022 |
| Non-syndromic renal or urinary tract malformation | 1 | Aug 3, 2022 |
| Noonan syndrome | 1 | Dec 21, 2022 |
| Noonan syndrome 1 | 22 | Apr 4, 2023 |
| Noonan syndrome 10 | 6 | Apr 4, 2023 |
| Noonan syndrome 11 | 1 | Apr 4, 2023 |
| Noonan syndrome 12 | 1 | Dec 21, 2022 |
| Noonan syndrome 13 | 1 | Aug 3, 2022 |
| Noonan syndrome 3 | 1 | Dec 21, 2022 |
| Noonan syndrome 4 | 7 | Dec 21, 2022 |
| Noonan syndrome 5 | 6 | Apr 4, 2023 |
| Noonan syndrome 6 | 1 | Dec 21, 2022 |
| Noonan syndrome 7 | 1 | Aug 3, 2022 |
| Noonan syndrome 8 | 5 | Apr 4, 2023 |
| Noonan syndrome 9 | 3 | Dec 21, 2022 |
| Noonan syndrome with multiple lentigines | 1 | Aug 3, 2022 |
| Noonan syndrome-like disorder with loose anagen hair 1 | 1 | Dec 21, 2022 |
| Noonan syndrome-like disorder with loose anagen hair 2 | 2 | Dec 21, 2022 |
| Normophosphatemic familial tumoral calcinosis | 1 | Aug 3, 2022 |
| Nystagmus 1, congenital, X-linked | 1 | Apr 4, 2023 |
| O'Donnell-Luria-Rodan syndrome | 4 | Dec 21, 2022 |
| Obesity due to SIM1 deficiency | 1 | Aug 3, 2022 |
| Ocular albinism, type I | 1 | Dec 21, 2022 |
| Oculocerebrofacial syndrome, Kaufman type | 2 | Dec 21, 2022 |
| Oculocutaneous albinism | 1 | Aug 3, 2022 |
| Oculocutaneous albinism type 1B | 2 | Aug 3, 2022 |
| Oculofaciocardiodental syndrome | 1 | Dec 21, 2022 |
| Oguchi disease-1 | 1 | Aug 3, 2022 |
| Okur-Chung neurodevelopmental syndrome | 2 | Dec 21, 2022 |
| Ornithine aminotransferase deficiency | 1 | Dec 21, 2022 |
| Ornithine carbamoyltransferase deficiency | 4 | Apr 4, 2023 |
| Orofacial cleft 11 | 1 | Dec 21, 2022 |
| Orofaciodigital syndrome I | 1 | Aug 3, 2022 |
| Orofaciodigital syndrome type 14 | 2 | Dec 21, 2022 |
| Osteodysplastic primordial dwarfism, type 1 | 1 | Dec 21, 2022 |
| Osteogenesis imperfecta type 11 | 1 | Dec 21, 2022 |
| Osteogenesis imperfecta type 5 | 1 | Dec 21, 2022 |
| Osteogenesis imperfecta type 7 | 2 | Dec 21, 2022 |
| Osteogenesis imperfecta type 8 | 2 | Dec 21, 2022 |
| Osteogenesis imperfecta type I | 14 | Dec 21, 2022 |
| Osteogenesis imperfecta type III | 1 | Dec 21, 2022 |
| Osteogenesis imperfecta with normal sclerae, dominant form | 1 | Dec 21, 2022 |
| Osteogenesis imperfecta, perinatal lethal | 1 | Nov 1, 2016 |
| Otofaciocervical syndrome 2 | 2 | Dec 21, 2022 |
| Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | 1 | Aug 3, 2022 |
| PHGDH deficiency | 1 | Aug 3, 2022 |
| PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 3 | Dec 21, 2022 |
| PIGG-related neurodevelopmental disorder | 1 | Oct 1, 2019 |
| PIK3CA related overgrowth syndrome | 1 | Dec 21, 2022 |
| PLA2G6-associated neurodegeneration | 1 | Dec 21, 2022 |
| PMM2-congenital disorder of glycosylation | 8 | Dec 21, 2022 |
| PTEN hamartoma tumor syndrome | 7 | Dec 21, 2022 |
| PTPN23-related neurodevelopmental disorder | 1 | Oct 1, 2019 |
| PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 4 | Apr 4, 2023 |
| PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation | 4 | Dec 21, 2022 |
| Pachyonychia congenita 3 | 1 | Dec 21, 2022 |
| Paget disease of bone 6 | 1 | Aug 3, 2022 |
| Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | 6 | Dec 21, 2022 |
| Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | 1 | Dec 21, 2022 |
| Parenti-mignot neurodevelopmental syndrome | 1 | Dec 21, 2022 |
| Parkinsonism-dystonia, infantile, 2 | 1 | Dec 21, 2022 |
| Paroxysmal nonkinesigenic dyskinesia 1 | 1 | Dec 21, 2022 |
| Partial androgen insensitivity syndrome | 1 | Aug 3, 2022 |
| Pearson syndrome | 2 | Jun 12, 2019 |
| Pelger-Huët anomaly | 1 | Nov 1, 2016 |
| Pelizaeus-Merzbacher disease | 1 | Aug 3, 2022 |
| Pendred syndrome | 9 | Dec 21, 2022 |
| Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | 2 | Dec 21, 2022 |
| Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | 1 | Dec 21, 2022 |
| Periventricular heterotopia with microcephaly, autosomal recessive | 2 | Dec 21, 2022 |
| Periventricular nodular heterotopia 9 | 2 | Aug 3, 2022 |
| Perlman syndrome | 2 | Dec 21, 2022 |
| Peroxisome biogenesis disorder | 2 | Dec 21, 2022 |
| Peroxisome biogenesis disorder 14B | 1 | Dec 21, 2022 |
| Peroxisome biogenesis disorder 1A (Zellweger) | 1 | Aug 3, 2022 |
| Peroxisome biogenesis disorder 2B | 1 | Aug 3, 2022 |
| Peroxisome biogenesis disorder 6B | 1 | Dec 21, 2022 |
| Peroxisome biogenesis disorder due to PEX1 defect | 4 | Dec 21, 2022 |
| Peroxisome biogenesis disorder due to PEX16 defect | 1 | Dec 21, 2022 |
| Perrault syndrome 1 | 2 | Dec 21, 2022 |
| Perrault syndrome 2 | 1 | Dec 21, 2022 |
| Perrault syndrome 4 | 1 | Dec 21, 2022 |
| Persistent Mullerian duct syndrome | 1 | Dec 21, 2022 |
| Phelan-McDermid syndrome | 1 | Dec 21, 2022 |
| Phenylketonuria | 10 | Dec 21, 2022 |
| Pierson syndrome | 1 | Apr 4, 2023 |
| Pigmentary retinal dystrophy | 1 | Dec 21, 2022 |
| Pilarowski-Bjornsson syndrome | 4 | Dec 21, 2022 |
| Pitt-Hopkins syndrome | 8 | Dec 21, 2022 |
| Pitt-Hopkins-like syndrome | 1 | Dec 21, 2022 |
| Platelet-type bleeding disorder 15 | 1 | Dec 21, 2022 |
| Poikiloderma with neutropenia | 1 | Dec 21, 2022 |
| Poirier-Bienvenu neurodevelopmental syndrome | 2 | Dec 21, 2022 |
| Polycystic kidney disease 2 | 16 | Dec 21, 2022 |
| Polycystic kidney disease 3 with or without polycystic liver disease | 3 | Dec 21, 2022 |
| Polycystic kidney disease 4 | 46 | Dec 21, 2022 |
| Polycystic kidney disease 6 with or without polycystic liver disease | 1 | Dec 21, 2022 |
| Polycystic kidney disease, adult type | 141 | Dec 21, 2022 |
| Polycystic liver disease 1 | 1 | Dec 21, 2022 |
| Polycystic liver disease 2 | 3 | Dec 21, 2022 |
| Polydactyly, postaxial, type A1 | 1 | Aug 3, 2022 |
| Polyendocrine-polyneuropathy syndrome | 1 | Aug 3, 2022 |
| Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | 4 | Aug 3, 2022 |
| Polysyndactyly 4 | 1 | Aug 3, 2022 |
| Pontocerebellar hypoplasia type 1B | 3 | Apr 4, 2023 |
| Pontocerebellar hypoplasia type 2A | 1 | Aug 3, 2022 |
| Pontocerebellar hypoplasia type 3 | 1 | Aug 3, 2022 |
| Pontocerebellar hypoplasia type 6 | 5 | Dec 21, 2022 |
| Pontocerebellar hypoplasia type 9 | 2 | Aug 30, 2020 |
| Porencephaly 2 | 2 | Dec 21, 2022 |
| Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | 1 | Dec 21, 2022 |
| Predisposition to invasive fungal disease due to CARD9 deficiency | 1 | Aug 3, 2022 |
| Premature ovarian failure 14 | 1 | Dec 21, 2022 |
| Premature ovarian insufficiency | 2 | Sep 16, 2020 |
| Primary ciliary dyskinesia 11 | 1 | Dec 21, 2022 |
| Primary ciliary dyskinesia 14 | 2 | Dec 21, 2022 |
| Primary ciliary dyskinesia 22 | 1 | Dec 21, 2022 |
| Primary ciliary dyskinesia 25 | 1 | Apr 4, 2023 |
| Primary ciliary dyskinesia 27 | 1 | Dec 21, 2022 |
| Primary ciliary dyskinesia 3 | 5 | Dec 21, 2022 |
| Primary ciliary dyskinesia 34 | 1 | Dec 21, 2022 |
| Primary ciliary dyskinesia 7 | 6 | Dec 21, 2022 |
| Primary coenzyme Q10 deficiency 8 | 2 | Dec 21, 2022 |
| Primary dilated cardiomyopathy | 10 | Dec 21, 2022 |
| Primary hyperoxaluria type 3 | 1 | Dec 21, 2022 |
| Primary hyperoxaluria, type I | 3 | Dec 21, 2022 |
| Primary hyperoxaluria, type II | 2 | Dec 21, 2022 |
| Primary hypomagnesemia | 1 | Aug 30, 2020 |
| Primrose syndrome | 2 | Dec 21, 2022 |
| Progressive familial heart block type IB | 1 | Aug 3, 2022 |
| Progressive familial intrahepatic cholestasis type 2 | 1 | Dec 21, 2022 |
| Progressive myoclonic epilepsy type 3 | 2 | Aug 3, 2022 |
| Progressive pseudorheumatoid dysplasia | 2 | Dec 21, 2022 |
| Progressive sclerosing poliodystrophy | 3 | Apr 4, 2023 |
| Propionic acidemia | 3 | Dec 21, 2022 |
| Proteinuria, chronic benign | 2 | Aug 3, 2022 |
| Protoporphyria, erythropoietic, 1 | 2 | Dec 21, 2022 |
| Psoriasis 2 | 1 | Dec 21, 2022 |
| Pulmonary hypertension, primary, 1 | 4 | Apr 4, 2023 |
| Purine-nucleoside phosphorylase deficiency | 1 | Apr 4, 2023 |
| Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | 1 | Dec 21, 2022 |
| Pyridoxine-dependent epilepsy | 4 | Apr 4, 2023 |
| Pyruvate dehydrogenase E1-alpha deficiency | 9 | Apr 4, 2023 |
| Pyruvate dehydrogenase E3 deficiency | 1 | Dec 21, 2022 |
| Qualitative or quantitative defects of perlecan | 1 | Aug 3, 2022 |
| RFT1-congenital disorder of glycosylation | 1 | Aug 3, 2022 |
| RYR1-related myopathy | 1 | Apr 4, 2023 |
| Radio-Tartaglia syndrome | 3 | Dec 21, 2022 |
| Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | 3 | Dec 21, 2022 |
| Rafiq syndrome | 2 | Dec 21, 2022 |
| Rauch-Steindl syndrome | 1 | Aug 3, 2022 |
| Recessive dystrophic epidermolysis bullosa | 5 | Apr 4, 2023 |
| Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | 4 | Apr 4, 2023 |
| Renal carnitine transport defect | 1 | Aug 3, 2022 |
| Renal cysts and diabetes syndrome | 15 | Dec 21, 2022 |
| Renal hypomagnesemia 5 with ocular involvement | 1 | Dec 21, 2022 |
| Renal tubular acidosis with progressive nerve deafness | 3 | Dec 21, 2022 |
| Renpenning syndrome | 1 | Aug 3, 2022 |
| Reticular dysgenesis | 1 | Aug 3, 2022 |
| Retinal dystrophy with or without macular staphyloma | 1 | Dec 21, 2022 |
| Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome | 1 | Dec 21, 2022 |
| Retinitis pigmentosa 10 | 1 | Dec 21, 2022 |
| Retinitis pigmentosa 11 | 2 | Dec 21, 2022 |
| Retinitis pigmentosa 13 | 1 | Dec 21, 2022 |
| Retinitis pigmentosa 2 | 1 | Dec 21, 2022 |
| Retinitis pigmentosa 25 | 3 | Dec 21, 2022 |
| Retinitis pigmentosa 26 | 2 | Dec 21, 2022 |
| Retinitis pigmentosa 30 | 1 | Dec 21, 2022 |
| Retinitis pigmentosa 31 | 1 | Dec 21, 2022 |
| Retinitis pigmentosa 39 | 2 | Dec 21, 2022 |
| Retinitis pigmentosa 43 | 3 | Dec 21, 2022 |
| Retinitis pigmentosa 70 | 2 | Dec 21, 2022 |
| Retinitis pigmentosa 71 | 1 | Dec 21, 2022 |
| Retinitis pigmentosa 78 | 1 | Dec 21, 2022 |
| Retinoblastoma | 1 | Dec 21, 2022 |
| Rett syndrome | 3 | Apr 4, 2023 |
| Rett syndrome, congenital variant | 2 | Dec 21, 2022 |
| Rhizomelic chondrodysplasia punctata type 1 | 1 | Dec 21, 2022 |
| Ritscher-Schinzel syndrome 2 | 3 | Dec 21, 2022 |
| Roifman syndrome | 2 | Apr 4, 2023 |
| Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | 1 | Aug 3, 2022 |
| Rothmund-Thomson syndrome type 2 | 4 | Dec 21, 2022 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 9 | Dec 21, 2022 |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 5 | Dec 21, 2022 |
| SATB2 associated disorder | 4 | Dec 21, 2022 |
| SIN3A-related intellectual disability syndrome | 3 | Dec 21, 2022 |
| SLC35A2-congenital disorder of glycosylation | 1 | Dec 21, 2022 |
| SLC39A8-CDG | 1 | Dec 21, 2022 |
| SNAP25-related disorder | 1 | Apr 4, 2023 |
| SRD5A3-congenital disorder of glycosylation | 1 | Aug 3, 2022 |
| SSR4-congenital disorder of glycosylation | 2 | Dec 21, 2022 |
| Saethre-Chotzen syndrome | 1 | Dec 21, 2022 |
| Sandhoff disease | 2 | Dec 21, 2022 |
| Schimke immuno-osseous dysplasia | 2 | Dec 21, 2022 |
| Schinzel-Giedion syndrome | 3 | Dec 21, 2022 |
| Schuurs-Hoeijmakers syndrome | 2 | Dec 21, 2022 |
| Schwannomatosis 2 | 3 | Dec 21, 2022 |
| Schwartz-Jampel syndrome type 1 | 1 | Dec 21, 2022 |
| Seckel syndrome 2 | 1 | Aug 3, 2022 |
| Seizures, benign familial infantile, 2 | 3 | Apr 4, 2023 |
| Seizures, benign familial neonatal, 1 | 2 | Dec 21, 2022 |
| Seizures, early-onset, with neurodegeneration and brain calcifications | 1 | Dec 21, 2022 |
| Self-limited familial infantile epilepsy | 1 | Dec 21, 2022 |
| Sengers syndrome | 2 | Dec 21, 2022 |
| Septo-optic dysplasia sequence | 1 | Nov 8, 2022 |
| Severe X-linked myotubular myopathy | 5 | Apr 4, 2023 |
| Severe combined immunodeficiency due to DNA-PKcs deficiency | 1 | Dec 21, 2022 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 1 | Aug 3, 2022 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | 1 | Dec 21, 2022 |
| Severe early-childhood-onset retinal dystrophy | 15 | Dec 21, 2022 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 2 | Dec 21, 2022 |
| Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | 2 | Dec 21, 2022 |
| Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | 1 | Dec 21, 2022 |
| Severe intellectual disability-progressive spastic diplegia syndrome | 8 | Dec 21, 2022 |
| Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | 1 | Aug 3, 2022 |
| Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | 1 | Apr 4, 2023 |
| Severe myoclonic epilepsy in infancy | 4 | Dec 21, 2022 |
| Shashi-Pena syndrome | 2 | Dec 21, 2022 |
| Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 | 1 | Aug 3, 2022 |
| Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 1 | Dec 21, 2022 |
| Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome | 1 | Aug 3, 2022 |
| Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | 1 | Dec 21, 2022 |
| Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome | 1 | Aug 3, 2022 |
| Short-rib thoracic dysplasia 10 with or without polydactyly | 3 | Dec 21, 2022 |
| Short-rib thoracic dysplasia 15 with polydactyly | 2 | Dec 21, 2022 |
| Short-rib thoracic dysplasia 7 with or without polydactyly | 2 | Dec 21, 2022 |
| Shprintzen-Goldberg syndrome | 2 | Dec 21, 2022 |
| Shukla-Vernon syndrome | 5 | Dec 21, 2022 |
| Shwachman-Diamond syndrome 1 | 2 | Dec 21, 2022 |
| Shwachman-Diamond syndrome 2 | 1 | Dec 21, 2022 |
| Sialic acid storage disease, severe infantile type | 2 | Dec 21, 2022 |
| Sialidosis type 2 | 2 | Dec 21, 2022 |
| Sick sinus syndrome 2, autosomal dominant | 1 | Dec 21, 2022 |
| Sifrim-Hitz-Weiss syndrome | 12 | Apr 4, 2023 |
| Simpson-Golabi-Behmel syndrome type 1 | 1 | Aug 3, 2022 |
| Sitosterolemia 1 | 1 | Aug 3, 2022 |
| Sitosterolemia 2 | 1 | Aug 3, 2022 |
| Situs inversus | 2 | Dec 21, 2022 |
| Skeletal dysplasia, mild, with joint laxity and advanced bone age | 1 | Dec 21, 2022 |
| Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome | 1 | Dec 21, 2022 |
| Skraban-Deardorff syndrome | 1 | Aug 3, 2022 |
| Smith-Lemli-Opitz syndrome | 6 | Apr 4, 2023 |
| Smith-Magenis syndrome | 3 | Dec 21, 2022 |
| Snijders Blok-Campeau syndrome | 9 | Apr 4, 2023 |
| Sotos syndrome | 13 | Apr 4, 2023 |
| Southeast Asian ovalocytosis | 1 | Apr 4, 2023 |
| Spastic ataxia 2 | 1 | Dec 21, 2022 |
| Spastic ataxia 3 | 1 | Aug 3, 2022 |
| Spastic ataxia 4 | 2 | Dec 21, 2022 |
| Spastic paraplegia 52, autosomal recessive | 1 | Aug 3, 2022 |
| Spastic paraplegia, intellectual disability, nystagmus, and obesity | 3 | Dec 21, 2022 |
| Spasticity-ataxia-gait anomalies syndrome | 1 | Dec 21, 2022 |
| Spinal muscular atrophy | 4 | Dec 21, 2022 |
| Spinal muscular atrophy with congenital bone fractures 2 | 1 | Apr 4, 2023 |
| Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | 2 | Dec 21, 2022 |
| Spinocerebellar ataxia type 13 | 1 | Aug 3, 2022 |
| Spinocerebellar ataxia type 14 | 1 | Aug 3, 2022 |
| Spinocerebellar ataxia type 19/22 | 3 | Dec 21, 2022 |
| Spinocerebellar ataxia type 21 | 1 | Dec 21, 2022 |
| Spinocerebellar ataxia type 23 | 1 | Dec 21, 2022 |
| Spinocerebellar ataxia type 26 | 2 | Dec 21, 2022 |
| Spinocerebellar ataxia type 38 | 1 | Dec 21, 2022 |
| Spinocerebellar ataxia type 42 | 2 | Dec 21, 2022 |
| Sponastrime dysplasia | 2 | Dec 21, 2022 |
| Spondyloepimetaphyseal dysplasia with multiple dislocations | 2 | Dec 21, 2022 |
| Spondyloepimetaphyseal dysplasia, Bieganski type | 1 | Dec 21, 2022 |
| Spondyloepiphyseal dysplasia congenita | 1 | Dec 21, 2022 |
| Spondyloepiphyseal dysplasia with congenital joint dislocations | 1 | Aug 3, 2022 |
| Spondylometaphyseal dysplasia - Sutcliffe type | 1 | Dec 21, 2022 |
| Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | 1 | Dec 21, 2022 |
| Spongy degeneration of central nervous system | 1 | Aug 3, 2022 |
| Squalene synthase deficiency | 1 | Dec 21, 2022 |
| Stargardt disease | 6 | Dec 21, 2022 |
| Steatocystoma multiplex | 1 | Dec 21, 2022 |
| Steel syndrome | 1 | Dec 21, 2022 |
| Stickler syndrome type 1 | 12 | Dec 21, 2022 |
| Stickler syndrome, type 4 | 3 | Dec 21, 2022 |
| Stickler syndrome, type I, nonsyndromic ocular | 2 | Dec 21, 2022 |
| Striatonigral degeneration, childhood-onset | 1 | Dec 21, 2022 |
| Structural heart defects and renal anomalies syndrome | 1 | Dec 21, 2022 |
| Subcortical band heterotopia | 1 | Dec 21, 2022 |
| Succinate-semialdehyde dehydrogenase deficiency | 1 | Dec 21, 2022 |
| Sudden cardiac failure, infantile | 5 | Dec 21, 2022 |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | 2 | Dec 21, 2022 |
| Supravalvar aortic stenosis | 1 | Dec 21, 2022 |
| Surfactant metabolism dysfunction, pulmonary, 2 | 1 | Apr 4, 2023 |
| Sweeney-Cox syndrome | 1 | Aug 3, 2022 |
| Syndromic X-linked intellectual disability 14 | 2 | Aug 3, 2022 |
| Syndromic X-linked intellectual disability 34 | 1 | Dec 21, 2022 |
| Syndromic X-linked intellectual disability 94 | 1 | Dec 21, 2022 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 6 | Dec 21, 2022 |
| Syndromic X-linked intellectual disability Najm type | 1 | Aug 3, 2022 |
| Syndromic X-linked intellectual disability Nascimento type | 1 | Dec 21, 2022 |
| Syndromic X-linked intellectual disability Raymond type | 2 | Dec 21, 2022 |
| Syndromic X-linked intellectual disability Siderius type | 3 | Dec 21, 2022 |
| Syndromic X-linked intellectual disability Snyder type | 1 | Apr 4, 2023 |
| Syndromic disease | 4 | Aug 3, 2022 |
| Syndromic intellectual disability | 1 | Aug 3, 2022 |
| Syndromic microphthalmia type 5 | 1 | Dec 21, 2022 |
| TARP syndrome | 4 | Dec 21, 2022 |
| TELO2-related intellectual disability-neurodevelopmental disorder | 2 | Dec 21, 2022 |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | 4 | Dec 21, 2022 |
| TNF receptor-associated periodic fever syndrome (TRAPS) | 1 | Dec 21, 2022 |
| TNNT2 -related cardiomyopathies | 1 | Apr 4, 2023 |
| Tatton-Brown-Rahman overgrowth syndrome | 7 | Dec 21, 2022 |
| Tay-Sachs disease | 7 | Dec 21, 2022 |
| Tay-Sachs disease, variant AB | 1 | Aug 3, 2022 |
| Telangiectasia, hereditary hemorrhagic, type 1 | 15 | Apr 4, 2023 |
| Telangiectasia, hereditary hemorrhagic, type 2 | 8 | Dec 21, 2022 |
| Temple-Baraitser syndrome | 1 | Aug 3, 2022 |
| Tenorio syndrome | 1 | Dec 21, 2022 |
| Tessadori-van Haaften neurodevelopmental syndrome 1 | 2 | Dec 21, 2022 |
| Testicular anomalies with or without congenital heart disease | 3 | Dec 21, 2022 |
| Testosterone 17-beta-dehydrogenase deficiency | 1 | Dec 21, 2022 |
| Tetralogy of Fallot | 2 | Dec 21, 2022 |
| Thrombocytopenia 5 | 2 | Aug 3, 2022 |
| Thrombophilia due to protein S deficiency, autosomal dominant | 1 | Apr 4, 2023 |
| Thrombophilia due to thrombin defect | 1 | Apr 4, 2023 |
| Thyroglobulin synthesis defect | 1 | Dec 21, 2022 |
| Timothy syndrome | 5 | Dec 21, 2022 |
| Timothy syndrome type 1 | 1 | Aug 3, 2022 |
| Tolchin-Le Caignec syndrome | 2 | Dec 21, 2022 |
| Tooth agenesis, selective, 7 | 1 | Dec 21, 2022 |
| Torsion dystonia 6 | 2 | Dec 21, 2022 |
| Townes-Brocks syndrome 1 | 2 | Dec 21, 2022 |
| Treacher Collins syndrome 1 | 5 | Dec 21, 2022 |
| Treacher Collins syndrome 4 | 1 | Dec 21, 2022 |
| Trichohepatoenteric syndrome 1 | 1 | Dec 21, 2022 |
| Trichohepatoenteric syndrome 2 | 1 | Dec 21, 2022 |
| Trichorhinophalangeal dysplasia type I | 3 | Dec 21, 2022 |
| Trichorhinophalangeal syndrome type I or III | 2 | Aug 3, 2022 |
| Trimethylaminuria | 1 | Aug 3, 2022 |
| Tuberous sclerosis 1 | 4 | Apr 4, 2023 |
| Tuberous sclerosis 2 | 10 | Dec 21, 2022 |
| Tumoral calcinosis, hyperphosphatemic, familial, 1 | 2 | Aug 3, 2022 |
| Type 2 collagenopathy | 3 | Dec 21, 2022 |
| Tyrosinase-negative oculocutaneous albinism | 3 | Dec 21, 2022 |
| Tyrosinase-positive oculocutaneous albinism | 10 | Dec 21, 2022 |
| Ullrich congenital muscular dystrophy 1A | 2 | Apr 4, 2023 |
| Ullrich congenital muscular dystrophy 2 | 1 | Dec 21, 2022 |
| Upshaw-Schulman syndrome | 2 | Apr 4, 2023 |
| Usher syndrome type 1C | 3 | Dec 21, 2022 |
| Usher syndrome type 1D | 4 | Dec 21, 2022 |
| Usher syndrome type 2 | 2 | Dec 21, 2022 |
| Usher syndrome type 2A | 18 | Apr 4, 2023 |
| Usher syndrome type 2C | 2 | Aug 3, 2022 |
| Usmani-Riazuddin syndrome, autosomal dominant | 1 | Dec 21, 2022 |
| VEXAS syndrome | 1 | Aug 3, 2022 |
| Van Maldergem syndrome 2 | 3 | Dec 21, 2022 |
| Vanishing white matter disease | 11 | Dec 21, 2022 |
| Variegate porphyria | 3 | Dec 21, 2022 |
| Vasculitis due to ADA2 deficiency | 3 | Apr 4, 2023 |
| Vertebral, cardiac, renal, and limb defects syndrome 3 | 1 | Aug 3, 2022 |
| Ververi-Brady syndrome | 2 | Dec 21, 2022 |
| Very long chain acyl-CoA dehydrogenase deficiency | 5 | Dec 21, 2022 |
| Visceral myopathy 1 | 2 | Dec 21, 2022 |
| Vissers-Bodmer syndrome | 3 | Dec 21, 2022 |
| WDR81-related neurodevelopmental disorder | 2 | Apr 4, 2023 |
| Waardenburg syndrome type 2A | 1 | Aug 15, 2019 |
| Wagner syndrome | 1 | Aug 3, 2022 |
| Warburg micro syndrome 2 | 2 | Dec 21, 2022 |
| Warsaw breakage syndrome | 4 | Dec 21, 2022 |
| Weaver syndrome | 2 | Dec 21, 2022 |
| Weill-Marchesani syndrome 1 | 1 | Aug 3, 2022 |
| Weiss-kruszka syndrome | 3 | Dec 21, 2022 |
| Wieacker-Wolff syndrome | 3 | Apr 4, 2023 |
| Wiedemann-Steiner syndrome | 18 | Dec 21, 2022 |
| Wilson disease | 10 | Dec 21, 2022 |
| Wilson-Turner syndrome | 4 | Dec 21, 2022 |
| Wiskott-Aldrich syndrome | 2 | Aug 3, 2022 |
| X-linked Alport syndrome | 20 | Dec 21, 2022 |
| X-linked Emery-Dreifuss muscular dystrophy | 1 | Dec 21, 2022 |
| X-linked Opitz G/BBB syndrome | 1 | Dec 21, 2022 |
| X-linked agammaglobulinemia | 3 | Aug 3, 2022 |
| X-linked chondrodysplasia punctata 1 | 2 | Dec 21, 2022 |
| X-linked complicated corpus callosum dysgenesis | 1 | Aug 3, 2022 |
| X-linked cone-rod dystrophy 3 | 2 | Aug 3, 2022 |
| X-linked distal spinal muscular atrophy type 3 | 1 | Aug 3, 2022 |
| X-linked hydrocephalus syndrome | 2 | Dec 21, 2022 |
| X-linked intellectual disability | 1 | Aug 3, 2022 |
| X-linked intellectual disability Cabezas type | 4 | Dec 21, 2022 |
| X-linked intellectual disability with marfanoid habitus | 1 | Dec 21, 2022 |
| X-linked intellectual disability, Cantagrel type | 2 | Dec 21, 2022 |
| X-linked intellectual disability, Stocco dos Santos type | 1 | Aug 3, 2022 |
| X-linked intellectual disability, van Esch type | 1 | Dec 21, 2022 |
| X-linked intellectual disability-cerebellar hypoplasia syndrome | 1 | Dec 21, 2022 |
| X-linked intellectual disability-psychosis-macroorchidism syndrome | 1 | Dec 21, 2022 |
| X-linked intellectual disability-short stature-overweight syndrome | 2 | Apr 4, 2023 |
| X-linked lymphoproliferative disease due to SH2D1A deficiency | 1 | Dec 21, 2022 |
| X-linked mixed hearing loss with perilymphatic gusher | 2 | Dec 21, 2022 |
| X-linked myopathy with postural muscle atrophy | 1 | Apr 4, 2023 |
| X-linked recessive nephrolithiasis with renal failure | 1 | Dec 21, 2022 |
| X-linked severe combined immunodeficiency | 1 | Apr 4, 2023 |
| X-linked syndromic intellectual disability | 1 | Aug 3, 2022 |
| Xeroderma pigmentosum group A | 2 | Dec 21, 2022 |
| Xeroderma pigmentosum group B | 2 | Dec 21, 2022 |
| Xeroderma pigmentosum, group D | 2 | Dec 21, 2022 |
| ZTTK syndrome | 9 | Dec 21, 2022 |
| Zinc deficiency, transient neonatal | 1 | Dec 21, 2022 |
| alpha Thalassemia | 1 | Apr 4, 2023 |
| beta Thalassemia | 1 | Dec 21, 2022 |
| not specified | 3 | Apr 4, 2023 |
| von Willebrand disease type 2 | 1 | Apr 4, 2023 |
