| 3 beta-Hydroxysteroid dehydrogenase deficiency | 2 | Nov 24, 2023 |
| 3-Methylglutaconic aciduria type 3 | 1 | Oct 19, 2023 |
| 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | 2 | Feb 2, 2022 |
| 3-methylcrotonyl-CoA carboxylase 2 deficiency | 1 | Nov 30, 2023 |
| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 1 | Oct 19, 2023 |
| 3M syndrome 1 | 4 | Oct 27, 2023 |
| 3M syndrome 2 | 2 | Nov 3, 2023 |
| 3MC syndrome 2 | 2 | Oct 19, 2023 |
| 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 1 | Oct 19, 2023 |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 1 | Dec 12, 2023 |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 1 | Nov 23, 2023 |
| ALG11-congenital disorder of glycosylation | 1 | Oct 19, 2023 |
| ALG3-congenital disorder of glycosylation | 1 | Feb 2, 2022 |
| ALG6-congenital disorder of glycosylation 1C | 1 | Nov 23, 2023 |
| Abdominal obesity-metabolic syndrome 4 | 1 | Nov 23, 2023 |
| Abetalipoproteinaemia | 1 | Oct 19, 2023 |
| Abortive cerebellar ataxia | 2 | Oct 19, 2023 |
| Achondroplasia | 2 | Nov 23, 2023 |
| Achromatopsia 2 | 4 | Oct 27, 2023 |
| Acne inversa, familial, 2 | 1 | Oct 19, 2023 |
| Acrocephalosyndactyly type I | 2 | Feb 2, 2022 |
| Acroerythrokeratoderma | 1 | Dec 9, 2023 |
| Actin accumulation myopathy | 1 | Dec 7, 2023 |
| Acute intermittent porphyria | 5 | Oct 27, 2023 |
| Acute myeloid leukemia | 1 | Oct 19, 2023 |
| Acyl-CoA oxidase deficiency | 2 | Oct 27, 2023 |
| Adams-Oliver syndrome 1 | 2 | Oct 19, 2023 |
| Adams-Oliver syndrome 2 | 1 | Dec 9, 2023 |
| Adenylosuccinate lyase deficiency | 2 | Mar 8, 2024 |
| Adrenoleukodystrophy | 8 | Feb 18, 2024 |
| Adult-onset autosomal dominant demyelinating leukodystrophy | 1 | Oct 19, 2023 |
| Agammaglobulinemia 8, autosomal dominant | 3 | Oct 19, 2023 |
| Agammaglobulinemia 9, autosomal recessive | 1 | Oct 19, 2023 |
| Aicardi-Goutieres syndrome 2 | 2 | Nov 24, 2023 |
| Aicardi-Goutieres syndrome 3 | 2 | Jan 9, 2023 |
| Aicardi-Goutieres syndrome 4 | 1 | Feb 2, 2022 |
| Aicardi-Goutieres syndrome 6 | 1 | Feb 2, 2022 |
| Al-Raqad syndrome | 1 | Dec 9, 2023 |
| Alacrima, achalasia, and intellectual disability syndrome | 1 | Oct 19, 2023 |
| Alagille syndrome due to a JAG1 point mutation | 4 | Oct 19, 2023 |
| Alagille syndrome due to a NOTCH2 point mutation | 1 | Dec 12, 2023 |
| Aldosterone-producing adenoma with seizures and neurological abnormalities | 2 | Dec 7, 2023 |
| Alexander disease | 1 | Oct 19, 2023 |
| Alkaptonuria | 1 | Oct 27, 2023 |
| Allan-Herndon-Dudley syndrome | 2 | Oct 27, 2023 |
| Alpha-N-acetylgalactosaminidase deficiency type 1 | 1 | Oct 19, 2023 |
| Alstrom syndrome | 5 | Dec 12, 2023 |
| Alternating hemiplegia of childhood 1 | 1 | Jan 9, 2023 |
| Alternating hemiplegia of childhood 2 | 3 | Nov 3, 2023 |
| Alzheimer disease 3 | 2 | Oct 27, 2023 |
| Alzheimer disease 9 | 6 | Oct 19, 2023 |
| Alzheimer disease type 1 | 2 | Oct 19, 2023 |
| Amelocerebrohypohidrotic syndrome | 2 | Oct 19, 2023 |
| Amelogenesis imperfecta type 1G | 1 | Dec 12, 2023 |
| Amyotrophic lateral sclerosis type 1 | 3 | Dec 12, 2023 |
| Amyotrophic lateral sclerosis type 21 | 1 | Oct 19, 2023 |
| Amyotrophic lateral sclerosis type 4 | 5 | Nov 24, 2023 |
| Amyotrophic lateral sclerosis type 6 | 3 | Oct 19, 2023 |
| Androgen resistance syndrome | 2 | Feb 2, 2022 |
| Anemia, congenital dyserythropoietic, type 1a | 3 | Oct 30, 2023 |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 6 | Dec 12, 2023 |
| Anencephaly 2 | 1 | Nov 24, 2023 |
| Angelman syndrome | 2 | Oct 19, 2023 |
| Annular epidermolytic ichthyosis | 1 | Feb 2, 2022 |
| Anophthalmia/microphthalmia-esophageal atresia syndrome | 2 | Oct 19, 2023 |
| Anterior segment dysgenesis 6 | 1 | Dec 9, 2023 |
| Aortic aneurysm, familial thoracic 4 | 1 | Oct 19, 2023 |
| Aortic valve disease 2 | 1 | Oct 19, 2023 |
| Aortic valve disease 3 | 1 | Oct 19, 2023 |
| Apparent mineralocorticoid excess | 1 | Dec 9, 2023 |
| Arginase deficiency | 2 | Dec 9, 2023 |
| Argininosuccinate lyase deficiency | 1 | Nov 3, 2023 |
| Ariboflavinosis | 1 | Oct 19, 2023 |
| Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 1 | Oct 19, 2023 |
| Arrhythmogenic right ventricular dysplasia 13 | 2 | Dec 7, 2023 |
| Arrhythmogenic right ventricular dysplasia 2 | 1 | Feb 2, 2022 |
| Arrhythmogenic right ventricular dysplasia 5 | 1 | Feb 2, 2022 |
| Arrhythmogenic right ventricular dysplasia 9 | 3 | Oct 30, 2023 |
| Arthrogryposis multiplex congenita 3, myogenic type | 5 | Oct 19, 2023 |
| Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum | 1 | Dec 7, 2023 |
| Arthrogryposis multiplex congenita 6 | 2 | Dec 12, 2023 |
| Arthrogryposis, distal, IIa 11 | 1 | Dec 12, 2023 |
| Arthrogryposis, distal, with impaired proprioception and touch | 3 | Oct 27, 2023 |
| Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | 1 | Oct 19, 2023 |
| Asphyxiating thoracic dystrophy 3 | 4 | Nov 23, 2023 |
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 1 | Oct 19, 2023 |
| Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | 1 | Jan 9, 2023 |
| Ataxia-pancytopenia syndrome | 1 | Dec 9, 2023 |
| Ataxia-telangiectasia syndrome | 18 | Oct 27, 2023 |
| Ataxia-telangiectasia-like disorder 1 | 2 | Dec 7, 2023 |
| Atrial fibrillation, familial, 7 | 3 | Dec 7, 2023 |
| Atrial septal defect 7 | 1 | Oct 19, 2023 |
| Atrial standstill 1 | 1 | Nov 24, 2023 |
| Atypical hemolytic-uremic syndrome with B factor anomaly | 1 | Dec 7, 2023 |
| Atypical hemolytic-uremic syndrome with C3 anomaly | 1 | Oct 27, 2023 |
| Atypical hemolytic-uremic syndrome with I factor anomaly | 1 | Nov 24, 2023 |
| Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly | 1 | Oct 19, 2023 |
| Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | 1 | Mar 15, 2024 |
| Auditory neuropathy-optic atrophy syndrome | 2 | Feb 2, 2022 |
| Autism, susceptibility to, 5 | 2 | Jan 9, 2023 |
| Autism, susceptibility to, X-linked 3 | 1 | Nov 24, 2023 |
| Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | 3 | Oct 19, 2023 |
| Autoimmune interstitial lung disease-arthritis syndrome | 1 | Oct 19, 2023 |
| Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency | 1 | Feb 2, 2022 |
| Autoimmune lymphoproliferative syndrome type 2A | 1 | Oct 19, 2023 |
| Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | 1 | Dec 12, 2023 |
| Autoinflammatory syndrome, familial, Behcet-like 1 | 2 | Dec 7, 2023 |
| Autosomal dominant Alport syndrome | 2 | Dec 7, 2023 |
| Autosomal dominant Parkinson disease 8 | 2 | Dec 7, 2023 |
| Autosomal dominant Robinow syndrome 1 | 1 | Nov 3, 2023 |
| Autosomal dominant aplasia and myelodysplasia | 1 | Oct 19, 2023 |
| Autosomal dominant centronuclear myopathy | 1 | Feb 2, 2022 |
| Autosomal dominant cerebellar ataxia, deafness and narcolepsy | 1 | Dec 7, 2023 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | 1 | Feb 2, 2022 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 1 | Oct 27, 2023 |
| Autosomal dominant distal renal tubular acidosis | 1 | Oct 19, 2023 |
| Autosomal dominant hypocalcemia 1 | 2 | Oct 19, 2023 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 1 | Dec 12, 2023 |
| Autosomal dominant limb-girdle muscular dystrophy type 1F | 2 | Oct 19, 2023 |
| Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency | 1 | Oct 19, 2023 |
| Autosomal dominant nocturnal frontal lobe epilepsy 1 | 1 | Feb 2, 2022 |
| Autosomal dominant nocturnal frontal lobe epilepsy 5 | 3 | Dec 7, 2023 |
| Autosomal dominant nonsyndromic hearing loss 11 | 1 | Feb 2, 2022 |
| Autosomal dominant nonsyndromic hearing loss 17 | 1 | Feb 2, 2022 |
| Autosomal dominant nonsyndromic hearing loss 20 | 1 | Oct 27, 2023 |
| Autosomal dominant nonsyndromic hearing loss 22 | 1 | Oct 19, 2023 |
| Autosomal dominant nonsyndromic hearing loss 2A | 2 | Oct 27, 2023 |
| Autosomal dominant nonsyndromic hearing loss 3B | 1 | Oct 19, 2023 |
| Autosomal dominant nonsyndromic hearing loss 4A | 2 | Dec 7, 2023 |
| Autosomal dominant osteopetrosis 1 | 1 | Oct 27, 2023 |
| Autosomal dominant osteopetrosis 2 | 1 | Oct 27, 2023 |
| Autosomal dominant sensory ataxia 1 | 1 | Dec 9, 2023 |
| Autosomal recessive Alport syndrome | 8 | Dec 12, 2023 |
| Autosomal recessive DOPA responsive dystonia | 6 | Dec 12, 2023 |
| Autosomal recessive Robinow syndrome | 1 | Nov 23, 2023 |
| Autosomal recessive ataxia due to ubiquinone deficiency | 1 | Dec 7, 2023 |
| Autosomal recessive ataxia, Beauce type | 1 | Oct 19, 2023 |
| Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | 1 | Oct 19, 2023 |
| Autosomal recessive complex spastic paraplegia type 9B | 1 | Jan 9, 2023 |
| Autosomal recessive congenital ichthyosis 1 | 8 | Dec 7, 2023 |
| Autosomal recessive congenital ichthyosis 10 | 3 | Nov 3, 2023 |
| Autosomal recessive congenital ichthyosis 4A | 2 | Dec 9, 2023 |
| Autosomal recessive congenital ichthyosis 4B | 2 | Oct 19, 2023 |
| Autosomal recessive congenital ichthyosis 5 | 1 | Oct 19, 2023 |
| Autosomal recessive congenital ichthyosis 6 | 2 | Oct 19, 2023 |
| Autosomal recessive congenital ichthyosis 9 | 1 | Oct 19, 2023 |
| Autosomal recessive distal spinal muscular atrophy 1 | 1 | Feb 2, 2022 |
| Autosomal recessive distal spinal muscular atrophy 2 | 2 | Oct 19, 2023 |
| Autosomal recessive early-onset Parkinson disease 23 | 2 | Oct 19, 2023 |
| Autosomal recessive early-onset Parkinson disease 6 | 2 | Oct 27, 2023 |
| Autosomal recessive early-onset Parkinson disease 7 | 1 | Feb 2, 2022 |
| Autosomal recessive hypophosphatemic bone disease | 2 | Oct 27, 2023 |
| Autosomal recessive inherited pseudoxanthoma elasticum | 3 | Nov 30, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 17 | Dec 9, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 22 | Nov 23, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2C | 5 | Dec 9, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2D | 6 | Dec 7, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2E | 9 | Nov 24, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 3 | Oct 19, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2L | 1 | Oct 19, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2M | 2 | Oct 19, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2O | 2 | Oct 19, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2Q | 2 | Dec 12, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2T | 2 | Oct 19, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2W | 1 | Oct 19, 2023 |
| Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency | 1 | Oct 19, 2023 |
| Autosomal recessive nonsyndromic hearing loss 12 | 2 | Oct 19, 2023 |
| Autosomal recessive nonsyndromic hearing loss 18A | 1 | Dec 7, 2023 |
| Autosomal recessive nonsyndromic hearing loss 18B | 2 | Oct 27, 2023 |
| Autosomal recessive nonsyndromic hearing loss 1A | 2 | Dec 12, 2023 |
| Autosomal recessive nonsyndromic hearing loss 22 | 1 | Feb 2, 2022 |
| Autosomal recessive nonsyndromic hearing loss 24 | 1 | Oct 19, 2023 |
| Autosomal recessive nonsyndromic hearing loss 28 | 1 | Nov 23, 2023 |
| Autosomal recessive nonsyndromic hearing loss 3 | 3 | Oct 27, 2023 |
| Autosomal recessive nonsyndromic hearing loss 30 | 2 | Dec 12, 2023 |
| Autosomal recessive nonsyndromic hearing loss 36 | 2 | Dec 7, 2023 |
| Autosomal recessive nonsyndromic hearing loss 4 | 5 | Feb 18, 2024 |
| Autosomal recessive nonsyndromic hearing loss 6 | 2 | Dec 12, 2023 |
| Autosomal recessive nonsyndromic hearing loss 7 | 2 | Dec 7, 2023 |
| Autosomal recessive nonsyndromic hearing loss 70 | 1 | Dec 9, 2023 |
| Autosomal recessive nonsyndromic hearing loss 77 | 2 | Dec 12, 2023 |
| Autosomal recessive nonsyndromic hearing loss 79 | 1 | Dec 9, 2023 |
| Autosomal recessive nonsyndromic hearing loss 86 | 1 | Dec 7, 2023 |
| Autosomal recessive nonsyndromic hearing loss 9 | 2 | Dec 12, 2023 |
| Autosomal recessive nonsyndromic hearing loss 93 | 2 | Dec 7, 2023 |
| Autosomal recessive osteopetrosis 1 | 3 | Dec 12, 2023 |
| Autosomal recessive osteopetrosis 4 | 2 | Nov 23, 2023 |
| Autosomal recessive osteopetrosis 7 | 1 | Jan 9, 2023 |
| Autosomal recessive osteopetrosis 8 | 1 | Nov 23, 2023 |
| Autosomal recessive pseudohypoaldosteronism type 1 | 1 | Oct 27, 2023 |
| Autosomal recessive spastic paraplegia type 76 | 1 | Oct 19, 2023 |
| Autosomal recessive spastic paraplegia type 78 | 3 | Oct 19, 2023 |
| Autosomal recessive spinocerebellar ataxia 14 | 6 | Oct 19, 2023 |
| Autosomal recessive spinocerebellar ataxia 16 | 1 | Oct 19, 2023 |
| Autosomal recessive spinocerebellar ataxia 2 | 1 | Oct 27, 2023 |
| Autosomal recessive spinocerebellar ataxia 20 | 1 | Jan 9, 2023 |
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 | 2 | Oct 19, 2023 |
| Baller-Gerold syndrome | 2 | Oct 19, 2023 |
| Bardet-Biedl syndrome 1 | 1 | Oct 19, 2023 |
| Bardet-Biedl syndrome 10 | 2 | Oct 19, 2023 |
| Bardet-Biedl syndrome 12 | 2 | Oct 19, 2023 |
| Bardet-Biedl syndrome 14 | 1 | Dec 7, 2023 |
| Bardet-Biedl syndrome 2 | 3 | Oct 19, 2023 |
| Bardet-Biedl syndrome 5 | 1 | Jan 9, 2023 |
| Bardet-Biedl syndrome 6 | 1 | Oct 19, 2023 |
| Bardet-Biedl syndrome 7 | 2 | Oct 19, 2023 |
| Bardet-Biedl syndrome 8 | 2 | Nov 3, 2023 |
| Bartter disease type 1 | 1 | Oct 19, 2023 |
| Bartter disease type 2 | 1 | Nov 24, 2023 |
| Bartter disease type 3 | 3 | Oct 19, 2023 |
| Bartter disease type 4A | 1 | Dec 9, 2023 |
| Beck-Fahrner syndrome | 2 | Oct 19, 2023 |
| Becker muscular dystrophy | 2 | Oct 19, 2023 |
| Benign familial hematuria | 2 | Oct 19, 2023 |
| Benign recurrent intrahepatic cholestasis type 1 | 1 | Dec 12, 2023 |
| Benign recurrent intrahepatic cholestasis type 2 | 2 | Oct 19, 2023 |
| Beta-D-mannosidosis | 1 | Oct 19, 2023 |
| Beta-hydroxyisobutyryl-CoA deacylase deficiency | 1 | Oct 19, 2023 |
| Beta-thalassemia HBB/LCRB | 8 | Mar 18, 2024 |
| Bethlem myopathy 1A | 7 | Oct 19, 2023 |
| Bethlem myopathy 2 | 6 | Oct 27, 2023 |
| Bifunctional peroxisomal enzyme deficiency | 5 | Dec 12, 2023 |
| Bilateral frontoparietal polymicrogyria | 8 | Nov 24, 2023 |
| Bilateral parasagittal parieto-occipital polymicrogyria | 1 | Oct 19, 2023 |
| Biotin-responsive basal ganglia disease | 1 | Nov 3, 2023 |
| Biotinidase deficiency | 6 | Dec 12, 2023 |
| Birt-Hogg-Dube syndrome | 1 | Feb 2, 2022 |
| Blau syndrome | 2 | Oct 19, 2023 |
| Blepharocheilodontic syndrome 1 | 1 | Nov 23, 2023 |
| Blepharocheilodontic syndrome 2 | 1 | Feb 2, 2022 |
| Blepharophimosis - intellectual disability syndrome, SBBYS type | 1 | Oct 19, 2023 |
| Blepharophimosis-impaired intellectual development syndrome | 1 | Jan 9, 2023 |
| Bloom syndrome | 1 | Oct 27, 2023 |
| Bone marrow failure syndrome 3 | 1 | Oct 19, 2023 |
| Bone marrow failure syndrome 5 | 1 | Oct 19, 2023 |
| Bone osteosarcoma | 1 | Dec 9, 2023 |
| Brain abnormalities, neurodegeneration, and dysosteosclerosis | 1 | Oct 19, 2023 |
| Brain small vessel disease 1 with or without ocular anomalies | 2 | Oct 19, 2023 |
| Branchiooculofacial syndrome | 1 | Oct 27, 2023 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 29 | Dec 7, 2023 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 28 | Dec 12, 2023 |
| Breast-ovarian cancer, familial, susceptibility to, 3 | 3 | Oct 19, 2023 |
| Breast-ovarian cancer, familial, susceptibility to, 4 | 3 | Dec 9, 2023 |
| Breast-ovarian cancer, familial, susceptibility to, 5 | 2 | Dec 7, 2023 |
| Brittle cornea syndrome 2 | 1 | Oct 19, 2023 |
| Brown-Vialetto-van Laere syndrome 2 | 2 | Oct 27, 2023 |
| Bruck syndrome 2 | 1 | Feb 2, 2022 |
| Brugada syndrome 1 | 2 | Nov 23, 2023 |
| Brugada syndrome 4 | 1 | Oct 19, 2023 |
| Brugada syndrome 9 | 1 | Oct 19, 2023 |
| Bullous ichthyosiform erythroderma | 1 | Feb 2, 2022 |
| C1Q deficiency | 2 | Nov 24, 2023 |
| CBL-related disorder | 2 | Dec 12, 2023 |
| CHARGE association | 1 | Feb 2, 2022 |
| COG1 congenital disorder of glycosylation | 1 | Oct 19, 2023 |
| Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | 1 | Oct 27, 2023 |
| Candidiasis, familial, 6 | 1 | Oct 19, 2023 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 4 | Nov 23, 2023 |
| Cardiac arrhythmia, ankyrin-B-related | 2 | Dec 7, 2023 |
| Cardiac valvular defect, developmental | 1 | Dec 9, 2023 |
| Cardiac, facial, and digital anomalies with developmental delay | 1 | Oct 19, 2023 |
| Cardiofaciocutaneous syndrome 3 | 1 | Jan 9, 2023 |
| Cardiomyopathy, dilated, 2F | 1 | Dec 7, 2023 |
| Cardiomyopathy, familial hypertrophic 27 | 3 | Dec 12, 2023 |
| Cardiomyopathy, familial hypertrophic, 28 | 1 | Oct 19, 2023 |
| Cardiomyopathy, familial restrictive, 1 | 1 | Dec 7, 2023 |
| Carnitine palmitoyl transferase 1A deficiency | 2 | Oct 19, 2023 |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 1 | Nov 3, 2023 |
| Catecholaminergic polymorphic ventricular tachycardia 2 | 1 | Nov 23, 2023 |
| Catel-Manzke syndrome | 1 | Oct 19, 2023 |
| Central core myopathy | 22 | Oct 19, 2023 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 | 3 | Oct 27, 2023 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 | 2 | Nov 3, 2023 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 | 1 | Feb 2, 2022 |
| Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | 2 | Jan 9, 2023 |
| Cerebellar atrophy with seizures and variable developmental delay | 2 | Dec 12, 2023 |
| Cerebellar atrophy, developmental delay, and seizures | 1 | Oct 19, 2023 |
| Cerebellar atrophy, visual impairment, and psychomotor retardation; | 1 | Oct 19, 2023 |
| Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 1 | Dec 12, 2023 |
| Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome | 1 | Dec 9, 2023 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 1 | Oct 27, 2023 |
| Cerebral folate transport deficiency | 3 | Oct 19, 2023 |
| Cerebral palsy, spastic quadriplegic, 2 | 1 | Oct 19, 2023 |
| Cerebroretinal microangiopathy with calcifications and cysts 1 | 3 | Nov 24, 2023 |
| Ceroid lipofuscinosis, neuronal, 6A | 3 | Dec 7, 2023 |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 1 | Feb 2, 2022 |
| Charcot-Marie-Tooth disease axonal type 2F | 1 | Dec 7, 2023 |
| Charcot-Marie-Tooth disease axonal type 2O | 2 | Oct 19, 2023 |
| Charcot-Marie-Tooth disease axonal type 2P | 2 | Oct 19, 2023 |
| Charcot-Marie-Tooth disease axonal type 2Q | 2 | Feb 2, 2022 |
| Charcot-Marie-Tooth disease axonal type 2S | 2 | Feb 2, 2022 |
| Charcot-Marie-Tooth disease axonal type 2T | 4 | Oct 27, 2023 |
| Charcot-Marie-Tooth disease axonal type 2Z | 2 | Nov 3, 2023 |
| Charcot-Marie-Tooth disease dominant intermediate B | 2 | Oct 27, 2023 |
| Charcot-Marie-Tooth disease dominant intermediate C | 1 | Nov 23, 2023 |
| Charcot-Marie-Tooth disease recessive intermediate A | 2 | Oct 27, 2023 |
| Charcot-Marie-Tooth disease recessive intermediate C | 3 | Oct 19, 2023 |
| Charcot-Marie-Tooth disease type 1B | 1 | Oct 27, 2023 |
| Charcot-Marie-Tooth disease type 1E | 1 | Oct 19, 2023 |
| Charcot-Marie-Tooth disease type 1F | 1 | Oct 19, 2023 |
| Charcot-Marie-Tooth disease type 2A1 | 1 | Oct 19, 2023 |
| Charcot-Marie-Tooth disease type 2A2 | 6 | Oct 27, 2023 |
| Charcot-Marie-Tooth disease type 2I | 1 | Oct 27, 2023 |
| Charcot-Marie-Tooth disease type 4A | 2 | Oct 27, 2023 |
| Charcot-Marie-Tooth disease type 4B1 | 1 | Oct 19, 2023 |
| Charcot-Marie-Tooth disease type 4B2 | 1 | Oct 19, 2023 |
| Charcot-Marie-Tooth disease type 4C | 4 | Oct 19, 2023 |
| Charcot-Marie-Tooth disease type 4D | 1 | Feb 2, 2022 |
| Charcot-Marie-Tooth disease type 4G | 1 | Oct 19, 2023 |
| Charcot-Marie-Tooth disease type 4J | 1 | Oct 19, 2023 |
| Charcot-Marie-Tooth disease type 4K | 1 | Dec 12, 2023 |
| Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; | 2 | Oct 19, 2023 |
| Charcot-Marie-Tooth disease, demyelinating, IIA 1I | 1 | Nov 24, 2023 |
| Charcot-Marie-Tooth disease, type IA | 3 | Oct 19, 2023 |
| Charcot-marie-tooth disease, axonal, type 2DD | 2 | Dec 9, 2023 |
| Charlevoix-Saguenay spastic ataxia | 9 | Dec 7, 2023 |
| Childhood apraxia of speech | 1 | Jan 9, 2023 |
| Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | 1 | Feb 2, 2022 |
| Cholestanol storage disease | 2 | Jan 9, 2023 |
| Cholestasis, progressive familial intrahepatic, 4 | 2 | Oct 27, 2023 |
| Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss | 6 | Dec 7, 2023 |
| Chondrodysplasia punctata 2 X-linked dominant | 2 | Oct 19, 2023 |
| Chorea-acanthocytosis | 8 | Dec 7, 2023 |
| Christianson syndrome | 1 | Jan 9, 2023 |
| Chylomicron retention disease | 1 | Jun 2, 2021 |
| Chédiak-Higashi syndrome | 2 | Feb 2, 2022 |
| Ciliary dyskinesia, primary, 40 | 2 | Oct 19, 2023 |
| Ciliary dyskinesia, primary, 42 | 1 | Oct 19, 2023 |
| Citrullinemia type I | 2 | Nov 3, 2023 |
| Clark-Baraitser syndrome | 2 | Nov 23, 2023 |
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 3 | Oct 27, 2023 |
| Classic dopamine transporter deficiency syndrome | 1 | Oct 19, 2023 |
| Classic homocystinuria | 6 | Dec 9, 2023 |
| Cobalamin C disease | 3 | Dec 9, 2023 |
| Cockayne syndrome type 2 | 4 | Nov 3, 2023 |
| Coenzyme Q10 deficiency, primary, 1 | 1 | Oct 19, 2023 |
| Coffin-Siris syndrome 6 | 1 | Jan 9, 2023 |
| Cognitive impairment with or without cerebellar ataxia | 1 | Oct 27, 2023 |
| Cohen syndrome | 3 | Dec 9, 2023 |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 11 | Dec 9, 2023 |
| Colorectal cancer, susceptibility to, 10 | 2 | Oct 19, 2023 |
| Colorectal cancer, susceptibility to, 12 | 4 | Oct 19, 2023 |
| Combined immunodeficiency due to DOCK8 deficiency | 10 | Dec 9, 2023 |
| Combined immunodeficiency due to LRBA deficiency | 10 | Dec 7, 2023 |
| Combined oxidative phosphorylation defect type 11 | 1 | Oct 19, 2023 |
| Combined oxidative phosphorylation defect type 13 | 2 | Oct 19, 2023 |
| Combined oxidative phosphorylation defect type 20 | 1 | Nov 23, 2023 |
| Combined oxidative phosphorylation defect type 21 | 1 | Oct 19, 2023 |
| Combined oxidative phosphorylation defect type 23 | 2 | Dec 12, 2023 |
| Combined oxidative phosphorylation defect type 24 | 2 | Jan 9, 2023 |
| Combined oxidative phosphorylation deficiency 35 | 1 | Oct 19, 2023 |
| Combined oxidative phosphorylation deficiency 36 | 1 | Dec 7, 2023 |
| Combined oxidative phosphorylation deficiency 44 | 1 | Oct 19, 2023 |
| Combined oxidative phosphorylation deficiency 55 | 2 | Dec 9, 2023 |
| Complement component 5 deficiency | 1 | Oct 19, 2023 |
| Complement component 6 deficiency | 1 | Dec 12, 2023 |
| Complex cortical dysplasia with other brain malformations 1 | 1 | Oct 19, 2023 |
| Complex cortical dysplasia with other brain malformations 2 | 2 | Jan 9, 2023 |
| Complex cortical dysplasia with other brain malformations 3 | 1 | Nov 24, 2023 |
| Complex cortical dysplasia with other brain malformations 5 | 2 | Feb 2, 2022 |
| Conduction disorder of the heart | 1 | Oct 19, 2023 |
| Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | 1 | Oct 27, 2023 |
| Congenital adrenal hypoplasia, X-linked | 3 | Oct 19, 2023 |
| Congenital afibrinogenemia | 2 | Oct 19, 2023 |
| Congenital amegakaryocytic thrombocytopenia | 1 | Oct 19, 2023 |
| Congenital anomalies of kidney and urinary tract 3 | 2 | Feb 2, 2022 |
| Congenital bile acid synthesis defect 1 | 3 | Dec 9, 2023 |
| Congenital bile acid synthesis defect 2 | 2 | Oct 19, 2023 |
| Congenital bile acid synthesis defect 3 | 1 | Oct 19, 2023 |
| Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome | 1 | Oct 27, 2023 |
| Congenital cataracts-facial dysmorphism-neuropathy syndrome | 1 | Jan 9, 2023 |
| Congenital contractural arachnodactyly | 2 | Dec 7, 2023 |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | 4 | Nov 23, 2023 |
| Congenital diarrhea 5 with tufting enteropathy | 1 | Oct 19, 2023 |
| Congenital diarrhea 7 with exudative enteropathy | 1 | Feb 2, 2022 |
| Congenital disorder of deglycosylation 1 | 1 | Oct 19, 2023 |
| Congenital dyserythropoietic anemia type 4 | 2 | Dec 7, 2023 |
| Congenital dyserythropoietic anemia, type II | 1 | Feb 2, 2022 |
| Congenital factor V deficiency | 1 | Dec 7, 2023 |
| Congenital factor VII deficiency | 2 | Dec 7, 2023 |
| Congenital generalized lipodystrophy type 1 | 3 | Dec 12, 2023 |
| Congenital generalized lipodystrophy type 2 | 1 | Oct 19, 2023 |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 1 | Feb 2, 2022 |
| Congenital hyperammonemia, type I | 1 | Oct 19, 2023 |
| Congenital microvillous atrophy | 3 | Feb 2, 2022 |
| Congenital multicore myopathy with external ophthalmoplegia | 2 | Dec 12, 2023 |
| Congenital muscular dystrophy due to LMNA mutation | 2 | Dec 7, 2023 |
| Congenital muscular dystrophy with cataracts and intellectual disability | 1 | Nov 23, 2023 |
| Congenital muscular hypertrophy-cerebral syndrome | 1 | Feb 2, 2022 |
| Congenital myasthenic syndrome 10 | 2 | Oct 19, 2023 |
| Congenital myasthenic syndrome 12 | 2 | Dec 9, 2023 |
| Congenital myasthenic syndrome 19 | 1 | Dec 12, 2023 |
| Congenital myasthenic syndrome 1A | 2 | Oct 19, 2023 |
| Congenital myasthenic syndrome 2A | 1 | Nov 23, 2023 |
| Congenital myasthenic syndrome 2C | 1 | Oct 19, 2023 |
| Congenital myasthenic syndrome 3B | 1 | Oct 19, 2023 |
| Congenital myasthenic syndrome 4A | 1 | Oct 19, 2023 |
| Congenital myasthenic syndrome 4B | 3 | Dec 9, 2023 |
| Congenital myasthenic syndrome 4C | 1 | Nov 3, 2023 |
| Congenital myasthenic syndrome 5 | 2 | Dec 7, 2023 |
| Congenital myasthenic syndrome 8 | 2 | Feb 2, 2022 |
| Congenital myasthenic syndrome 9 | 1 | Oct 19, 2023 |
| Congenital myopathy 23 | 2 | Oct 27, 2023 |
| Congenital myopathy 4A, autosomal dominant | 3 | Nov 3, 2023 |
| Congenital myopathy 4B, autosomal recessive | 1 | Oct 19, 2023 |
| Congenital myotonia, autosomal dominant form | 2 | Oct 19, 2023 |
| Congenital myotonia, autosomal recessive form | 10 | Dec 7, 2023 |
| Congenital stationary night blindness 1B | 1 | Dec 12, 2023 |
| Congenital stationary night blindness 1C | 1 | Feb 2, 2022 |
| Corneal dystrophy, Fuchs endothelial, 3 | 1 | Nov 24, 2023 |
| Corneal dystrophy, Fuchs endothelial, 8 | 1 | Dec 7, 2023 |
| Cornelia de Lange syndrome 1 | 1 | Oct 27, 2023 |
| Cortical dysplasia-focal epilepsy syndrome | 1 | Nov 24, 2023 |
| Costello syndrome | 1 | Nov 23, 2023 |
| Cowden syndrome 1 | 3 | Nov 3, 2023 |
| Cowden syndrome 6 | 1 | Oct 19, 2023 |
| Cowden syndrome 7 | 1 | Nov 3, 2023 |
| Cranioectodermal dysplasia 1 | 1 | Oct 19, 2023 |
| Craniolenticulosutural dysplasia | 1 | Oct 30, 2023 |
| Crigler-Najjar syndrome, type II | 4 | Oct 27, 2023 |
| Cryptosporidiosis-chronic cholangitis-liver disease syndrome | 1 | Oct 19, 2023 |
| Cutaneous porphyria | 1 | Dec 12, 2023 |
| Cystic fibrosis | 28 | Dec 12, 2023 |
| Cystinuria | 2 | Nov 24, 2023 |
| D,L-2-hydroxyglutaric aciduria | 1 | Dec 12, 2023 |
| DEGCAGS syndrome | 1 | Jan 9, 2023 |
| DOCK2 deficiency | 1 | Oct 19, 2023 |
| DOORS syndrome | 1 | Feb 2, 2022 |
| DYRK1A-related intellectual disability syndrome | 3 | Dec 7, 2023 |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 1 | Oct 27, 2023 |
| Deficiency of acetyl-CoA acetyltransferase | 3 | Nov 3, 2023 |
| Deficiency of aromatic-L-amino-acid decarboxylase | 1 | Oct 19, 2023 |
| Deficiency of butyryl-CoA dehydrogenase | 2 | Dec 9, 2023 |
| Deficiency of butyrylcholinesterase | 3 | Dec 12, 2023 |
| Deficiency of cytochrome-b5 reductase | 2 | Oct 19, 2023 |
| Deficiency of ferroxidase | 1 | Oct 19, 2023 |
| Deficiency of hydroxymethylglutaryl-CoA lyase | 1 | Oct 19, 2023 |
| Deficiency of iodide peroxidase | 1 | Oct 27, 2023 |
| Deficiency of steroid 11-beta-monooxygenase | 2 | Oct 27, 2023 |
| Deficiency of steroid 17-alpha-monooxygenase | 2 | Oct 19, 2023 |
| Deficiency of transaldolase | 1 | Oct 19, 2023 |
| Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | 3 | Dec 9, 2023 |
| Dent disease type 1 | 2 | Oct 27, 2023 |
| Desbuquois dysplasia 2 | 1 | Oct 19, 2023 |
| Desmin-related myofibrillar myopathy | 3 | Oct 27, 2023 |
| Developmental and epileptic encephalopathy 106 | 1 | Oct 19, 2023 |
| Developmental and epileptic encephalopathy 6B | 5 | Dec 9, 2023 |
| Developmental and epileptic encephalopathy 94 | 3 | Oct 19, 2023 |
| Developmental and epileptic encephalopathy 99 | 1 | Jan 9, 2023 |
| Developmental and epileptic encephalopathy, 1 | 4 | Feb 18, 2024 |
| Developmental and epileptic encephalopathy, 11 | 20 | Dec 12, 2023 |
| Developmental and epileptic encephalopathy, 12 | 2 | Feb 2, 2022 |
| Developmental and epileptic encephalopathy, 13 | 6 | Dec 7, 2023 |
| Developmental and epileptic encephalopathy, 14 | 8 | Oct 27, 2023 |
| Developmental and epileptic encephalopathy, 15 | 1 | Feb 2, 2022 |
| Developmental and epileptic encephalopathy, 16 | 1 | Oct 19, 2023 |
| Developmental and epileptic encephalopathy, 18 | 5 | Oct 19, 2023 |
| Developmental and epileptic encephalopathy, 2 | 8 | Oct 27, 2023 |
| Developmental and epileptic encephalopathy, 23 | 2 | Feb 2, 2022 |
| Developmental and epileptic encephalopathy, 26 | 3 | Oct 19, 2023 |
| Developmental and epileptic encephalopathy, 27 | 8 | Dec 7, 2023 |
| Developmental and epileptic encephalopathy, 28 | 1 | Oct 19, 2023 |
| Developmental and epileptic encephalopathy, 29 | 4 | Dec 9, 2023 |
| Developmental and epileptic encephalopathy, 3 | 2 | Oct 19, 2023 |
| Developmental and epileptic encephalopathy, 30 | 3 | Nov 24, 2023 |
| Developmental and epileptic encephalopathy, 31 | 3 | Oct 19, 2023 |
| Developmental and epileptic encephalopathy, 32 | 1 | Jan 9, 2023 |
| Developmental and epileptic encephalopathy, 33 | 1 | Oct 19, 2023 |
| Developmental and epileptic encephalopathy, 36 | 4 | Oct 19, 2023 |
| Developmental and epileptic encephalopathy, 38 | 1 | Jan 9, 2023 |
| Developmental and epileptic encephalopathy, 39 | 1 | Oct 19, 2023 |
| Developmental and epileptic encephalopathy, 4 | 5 | Dec 7, 2023 |
| Developmental and epileptic encephalopathy, 41 | 3 | Oct 19, 2023 |
| Developmental and epileptic encephalopathy, 42 | 9 | Feb 18, 2024 |
| Developmental and epileptic encephalopathy, 45 | 1 | Oct 19, 2023 |
| Developmental and epileptic encephalopathy, 46 | 7 | Dec 7, 2023 |
| Developmental and epileptic encephalopathy, 47 | 2 | Oct 19, 2023 |
| Developmental and epileptic encephalopathy, 5 | 4 | Oct 27, 2023 |
| Developmental and epileptic encephalopathy, 50 | 1 | Jan 9, 2023 |
| Developmental and epileptic encephalopathy, 52 | 1 | Dec 7, 2023 |
| Developmental and epileptic encephalopathy, 54 | 1 | Oct 27, 2023 |
| Developmental and epileptic encephalopathy, 57 | 1 | Oct 19, 2023 |
| Developmental and epileptic encephalopathy, 58 | 1 | Jan 9, 2023 |
| Developmental and epileptic encephalopathy, 59 | 2 | Nov 24, 2023 |
| Developmental and epileptic encephalopathy, 62 | 3 | Oct 19, 2023 |
| Developmental and epileptic encephalopathy, 63 | 1 | Oct 19, 2023 |
| Developmental and epileptic encephalopathy, 64 | 6 | Dec 9, 2023 |
| Developmental and epileptic encephalopathy, 66 | 2 | Oct 19, 2023 |
| Developmental and epileptic encephalopathy, 67 | 2 | Oct 19, 2023 |
| Developmental and epileptic encephalopathy, 69 | 5 | Nov 23, 2023 |
| Developmental and epileptic encephalopathy, 7 | 14 | Dec 12, 2023 |
| Developmental and epileptic encephalopathy, 72 | 1 | Oct 19, 2023 |
| Developmental and epileptic encephalopathy, 73 | 1 | Oct 19, 2023 |
| Developmental and epileptic encephalopathy, 75 | 1 | Oct 19, 2023 |
| Developmental and epileptic encephalopathy, 76 | 2 | Oct 19, 2023 |
| Developmental and epileptic encephalopathy, 79 | 1 | Oct 19, 2023 |
| Developmental and epileptic encephalopathy, 81 | 1 | Jan 27, 2023 |
| Developmental and epileptic encephalopathy, 83 | 1 | Jan 9, 2023 |
| Developmental and epileptic encephalopathy, 85, with or without midline brain defects | 2 | Dec 9, 2023 |
| Developmental and epileptic encephalopathy, 87 | 1 | Oct 19, 2023 |
| Developmental and epileptic encephalopathy, 9 | 4 | Dec 7, 2023 |
| Developmental and epileptic encephalopathy, 90 | 1 | Nov 24, 2023 |
| Developmental delay with autism spectrum disorder and gait instability | 1 | Nov 24, 2023 |
| Developmental delay with or without dysmorphic facies and autism | 4 | Oct 19, 2023 |
| Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 | 1 | Dec 7, 2023 |
| Developmental delay with variable intellectual impairment and behavioral abnormalities | 4 | Oct 19, 2023 |
| Developmental delay with variable neurologic and brain abnormalities | 1 | Dec 7, 2023 |
| Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities | 2 | Dec 7, 2023 |
| Developmental delay, impaired speech, and behavioral abnormalities | 1 | Nov 23, 2023 |
| Diabetes mellitus, permanent neonatal 2 | 2 | Oct 19, 2023 |
| Diabetes mellitus, transient neonatal, 2 | 2 | Dec 7, 2023 |
| Diamond-Blackfan anemia 1 | 2 | Oct 19, 2023 |
| Diamond-Blackfan anemia 3 | 2 | Oct 19, 2023 |
| Diaphyseal dysplasia | 1 | Oct 19, 2023 |
| Dias-Logan syndrome | 1 | Nov 23, 2023 |
| Diastrophic dysplasia | 1 | Oct 19, 2023 |
| Diets-Jongmans syndrome | 1 | Nov 24, 2023 |
| Dihydropteridine reductase deficiency | 1 | Oct 19, 2023 |
| Dilated cardiomyopathy 1CC | 1 | Oct 19, 2023 |
| Dilated cardiomyopathy 1D | 1 | Oct 19, 2023 |
| Dilated cardiomyopathy 1E | 1 | Oct 19, 2023 |
| Dilated cardiomyopathy 1G | 1 | Nov 23, 2023 |
| Dilated cardiomyopathy 1I | 1 | Dec 7, 2023 |
| Dilated cardiomyopathy 1JJ | 4 | Dec 7, 2023 |
| Dilated cardiomyopathy 1NN | 1 | Feb 2, 2022 |
| Dilated cardiomyopathy 1O | 1 | Feb 2, 2022 |
| Dilated cardiomyopathy 1S | 1 | Feb 2, 2022 |
| Dilated cardiomyopathy 1V | 1 | Feb 2, 2022 |
| Dilated cardiomyopathy 1Z | 1 | Oct 19, 2023 |
| Dilated cardiomyopathy 2A | 1 | Oct 27, 2023 |
| Distal arthrogryposis type 5D | 1 | Oct 19, 2023 |
| Distal myopathy with posterior leg and anterior hand involvement | 1 | Oct 19, 2023 |
| Dopa-responsive dystonia due to sepiapterin reductase deficiency | 1 | Oct 19, 2023 |
| Drash syndrome | 2 | Oct 19, 2023 |
| Dubin-Johnson syndrome | 5 | Feb 18, 2024 |
| Duchenne muscular dystrophy | 18 | Dec 9, 2023 |
| Dyggve-Melchior-Clausen syndrome | 1 | Oct 19, 2023 |
| Dyskeratosis congenita, autosomal dominant 2 | 1 | Oct 27, 2023 |
| Dyskeratosis congenita, autosomal recessive 5 | 4 | Nov 24, 2023 |
| Dyskinesia with orofacial involvement, autosomal dominant | 3 | Dec 7, 2023 |
| Dystonia 12 | 1 | Oct 19, 2023 |
| Dystonia 16 | 2 | Oct 27, 2023 |
| Dystonia 24 | 1 | Oct 19, 2023 |
| Dystonia 28, childhood-onset | 2 | Oct 27, 2023 |
| Dystonia 33 | 1 | Nov 24, 2023 |
| Dystonia 9 | 2 | Oct 19, 2023 |
| EAST syndrome | 3 | Nov 24, 2023 |
| Early-onset Parkinson disease 20 | 1 | Oct 19, 2023 |
| Early-onset generalized limb-onset dystonia | 1 | Nov 3, 2023 |
| Early-onset myopathy with fatal cardiomyopathy | 3 | Dec 12, 2023 |
| Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | 3 | Dec 7, 2023 |
| Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | 5 | Nov 3, 2023 |
| Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome | 1 | Dec 12, 2023 |
| Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | 1 | Oct 19, 2023 |
| Ectopia lentis et pupillae | 1 | Oct 19, 2023 |
| Ehlers-Danlos syndrome due to tenascin-X deficiency | 1 | Oct 19, 2023 |
| Ehlers-Danlos syndrome, arthrochalasia type | 1 | Nov 23, 2023 |
| Ehlers-Danlos syndrome, cardiac valvular type | 1 | Oct 27, 2023 |
| Ehlers-Danlos syndrome, classic type, 1 | 2 | Dec 12, 2023 |
| Ehlers-Danlos syndrome, classic type, 2 | 1 | Feb 2, 2022 |
| Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 2 | Dec 7, 2023 |
| Eichsfeld type congenital muscular dystrophy | 2 | Nov 30, 2023 |
| Elliptocytosis 1 | 3 | Nov 23, 2023 |
| Elliptocytosis 2 | 4 | Dec 9, 2023 |
| Ellis-van Creveld syndrome | 2 | Nov 23, 2023 |
| Emery-Dreifuss muscular dystrophy 1, X-linked | 1 | Oct 19, 2023 |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 1 | Oct 19, 2023 |
| Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 4 | Nov 24, 2023 |
| Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 3 | Dec 7, 2023 |
| Encephalopathy due to GLUT1 deficiency | 3 | Nov 3, 2023 |
| Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | 2 | Oct 19, 2023 |
| Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | 1 | Feb 2, 2022 |
| Endometrial carcinoma | 5 | Dec 12, 2023 |
| Enhanced S-cone syndrome | 1 | Oct 19, 2023 |
| Enterokinase deficiency | 2 | Dec 12, 2023 |
| Epicanthus | 1 | Feb 2, 2022 |
| Epidermolysis bullosa simplex 1A, generalized severe | 2 | Oct 27, 2023 |
| Epidermolysis bullosa simplex 1C, localized | 1 | Feb 2, 2022 |
| Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive | 1 | Oct 19, 2023 |
| Epidermolysis bullosa simplex 5B, with muscular dystrophy | 1 | Feb 2, 2022 |
| Epidermolysis bullosa simplex 5C, with pyloric atresia | 1 | Oct 19, 2023 |
| Epidermolysis bullosa simplex 7, with nephropathy and deafness | 1 | Feb 2, 2022 |
| Epidermolysis bullosa simplex due to plakophilin deficiency | 1 | Feb 2, 2022 |
| Epidermolysis bullosa simplex with nail dystrophy | 4 | Nov 24, 2023 |
| Epidermolysis bullosa simplex, Koebner type | 1 | Feb 2, 2022 |
| Epidermolysis bullosa, junctional 4, intermediate | 3 | Nov 24, 2023 |
| Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | 1 | Oct 19, 2023 |
| Epilepsy, early-onset, vitamin B6-dependent | 1 | Jan 9, 2023 |
| Epilepsy, familial focal, with variable foci 1 | 14 | Dec 9, 2023 |
| Epilepsy, familial focal, with variable foci 2 | 2 | Dec 9, 2023 |
| Epilepsy, familial focal, with variable foci 3 | 1 | Mar 15, 2024 |
| Epilepsy, familial focal, with variable foci 4 | 2 | Jan 9, 2023 |
| Epilepsy, idiopathic generalized, susceptibility to, 10 | 1 | Jan 9, 2023 |
| Epilepsy, idiopathic generalized, susceptibility to, 11 | 1 | Jan 9, 2023 |
| Epileptic encephalopathy, infantile or early childhood, 1 | 1 | Nov 24, 2023 |
| Epileptic encephalopathy, infantile or early childhood, 3 | 1 | Oct 19, 2023 |
| Episodic ataxia type 2 | 1 | Mar 18, 2024 |
| Episodic kinesigenic dyskinesia 1 | 1 | Dec 7, 2023 |
| Erythrocytosis, familial, 3 | 1 | Oct 19, 2023 |
| Erythrocytosis, familial, 4 | 1 | Oct 19, 2023 |
| Erythrocytosis, familial, 6 | 1 | Oct 19, 2023 |
| Ethylmalonic encephalopathy | 3 | Dec 9, 2023 |
| Exostoses, multiple, type 1 | 1 | Oct 19, 2023 |
| Exostoses, multiple, type 2 | 1 | Oct 19, 2023 |
| FG syndrome 2 | 1 | Nov 3, 2023 |
| FG syndrome 4 | 2 | Jan 9, 2023 |
| Fabry disease | 1 | Jun 2, 2021 |
| Factor H deficiency | 1 | Dec 9, 2023 |
| Factor XIII, A subunit, deficiency of | 1 | Oct 19, 2023 |
| Familial Mediterranean fever | 1 | Dec 9, 2023 |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 5 | Dec 12, 2023 |
| Familial adenomatous polyposis 1 | 7 | Mar 15, 2024 |
| Familial adenomatous polyposis 2 | 2 | Feb 2, 2022 |
| Familial adenomatous polyposis 4 | 1 | Oct 19, 2023 |
| Familial amyloid nephropathy with urticaria AND deafness | 1 | Oct 19, 2023 |
| Familial cancer of breast | 35 | Dec 12, 2023 |
| Familial cold autoinflammatory syndrome 4 | 1 | Dec 9, 2023 |
| Familial hemophagocytic lymphohistiocytosis 2 | 3 | Oct 30, 2023 |
| Familial hemophagocytic lymphohistiocytosis 3 | 5 | Nov 24, 2023 |
| Familial hemophagocytic lymphohistiocytosis 5 | 1 | Dec 12, 2023 |
| Familial hyperaldosteronism type II | 1 | Oct 19, 2023 |
| Familial hypocalciuric hypercalcemia 1 | 1 | Dec 7, 2023 |
| Familial hypokalemia-hypomagnesemia | 6 | Nov 23, 2023 |
| Familial idiopathic hypercalciuria | 3 | Oct 30, 2023 |
| Familial isolated congenital asplenia | 1 | Dec 7, 2023 |
| Familial juvenile hyperuricemic nephropathy type 1 | 4 | Dec 9, 2023 |
| Familial juvenile hyperuricemic nephropathy type 2 | 1 | Feb 2, 2022 |
| Familial partial lipodystrophy, Dunnigan type | 3 | Oct 19, 2023 |
| Familial pulmonary capillary hemangiomatosis | 1 | Oct 19, 2023 |
| Familial renal glucosuria | 1 | Oct 19, 2023 |
| Familial temporal lobe epilepsy 5 | 2 | Nov 24, 2023 |
| Familial temporal lobe epilepsy 7 | 2 | Dec 7, 2023 |
| Fanconi anemia complementation group A | 22 | Dec 9, 2023 |
| Fanconi anemia complementation group C | 3 | Oct 27, 2023 |
| Fanconi anemia complementation group D1 | 2 | Oct 19, 2023 |
| Fanconi anemia complementation group G | 2 | Nov 3, 2023 |
| Fanconi anemia complementation group I | 4 | Dec 9, 2023 |
| Fanconi anemia complementation group J | 2 | Oct 19, 2023 |
| Fanconi anemia complementation group L | 2 | Oct 30, 2023 |
| Fanconi anemia complementation group N | 2 | Oct 19, 2023 |
| Fanconi anemia complementation group P | 2 | Dec 12, 2023 |
| Fanconi renotubular syndrome 1 | 2 | Oct 19, 2023 |
| Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | 1 | Oct 19, 2023 |
| Fanconi-Bickel syndrome | 1 | Oct 19, 2023 |
| Farber lipogranulomatosis | 3 | Dec 12, 2023 |
| Febrile seizures, familial, 2 | 1 | Dec 7, 2023 |
| Febrile seizures, familial, 4 | 4 | Dec 7, 2023 |
| Filippi syndrome | 1 | Oct 19, 2023 |
| Finnish congenital nephrotic syndrome | 7 | Oct 19, 2023 |
| Focal dermal hypoplasia | 1 | Feb 2, 2022 |
| Focal segmental glomerulosclerosis 2 | 2 | Oct 19, 2023 |
| Focal segmental glomerulosclerosis 8 | 2 | Oct 19, 2023 |
| Fontaine progeroid syndrome | 1 | Oct 19, 2023 |
| Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome | 1 | Dec 12, 2023 |
| Fraser syndrome 1 | 2 | Dec 9, 2023 |
| Fraser syndrome 2 | 4 | Dec 12, 2023 |
| Frontotemporal dementia | 1 | Oct 19, 2023 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 1 | Feb 2, 2022 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 2 | Oct 27, 2023 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 | 2 | Oct 27, 2023 |
| Fucosidosis | 1 | Oct 19, 2023 |
| GAPO syndrome | 1 | Dec 9, 2023 |
| GM1 gangliosidosis type 2 | 2 | Oct 19, 2023 |
| GNE myopathy | 8 | Dec 9, 2023 |
| GNPTG-mucolipidosis | 2 | Nov 23, 2023 |
| GTP cyclohydrolase I deficiency with hyperphenylalaninemia | 1 | Feb 2, 2022 |
| Galactosylceramide beta-galactosidase deficiency | 8 | Dec 9, 2023 |
| Galloway-Mowat syndrome 1 | 2 | Jan 9, 2023 |
| Galloway-Mowat syndrome 2, X-linked | 1 | Oct 27, 2023 |
| Galloway-Mowat syndrome 3 | 1 | Oct 19, 2023 |
| Gamma-glutamylcysteine synthetase deficiency | 1 | Nov 23, 2023 |
| Gastrointestinal defects and immunodeficiency syndrome 1 | 1 | Oct 19, 2023 |
| Gaucher disease type I | 2 | Feb 2, 2022 |
| Gaze palsy, familial horizontal, with progressive scoliosis 1 | 1 | Oct 19, 2023 |
| Generalized dominant dystrophic epidermolysis bullosa | 3 | Oct 27, 2023 |
| Generalized epilepsy with febrile seizures plus, type 1 | 1 | Oct 19, 2023 |
| Generalized epilepsy with febrile seizures plus, type 2 | 14 | Dec 7, 2023 |
| Generalized epilepsy-paroxysmal dyskinesia syndrome | 2 | Dec 7, 2023 |
| Ghosal hematodiaphyseal dysplasia | 1 | Oct 19, 2023 |
| Giant axonal neuropathy 1 | 1 | Oct 27, 2023 |
| Gilbert syndrome | 1 | Nov 24, 2023 |
| Gillespie syndrome | 1 | Oct 19, 2023 |
| Glanzmann thrombasthenia 1 | 5 | Dec 7, 2023 |
| Glanzmann thrombasthenia 2 | 2 | Oct 19, 2023 |
| Glaucoma 1, open angle, A | 1 | Dec 7, 2023 |
| Glaucoma 1, open angle, G | 1 | Oct 27, 2023 |
| Glaucoma 3A | 2 | Dec 7, 2023 |
| Global developmental delay | 1 | Jan 27, 2023 |
| Global developmental delay with or without impaired intellectual development | 2 | Nov 24, 2023 |
| Global developmental delay with speech and behavioral abnormalities | 2 | Dec 7, 2023 |
| Global developmental delay, progressive ataxia, and elevated glutamine | 1 | Nov 24, 2023 |
| Glomerulopathy with fibronectin deposits 2 | 3 | Dec 7, 2023 |
| Glomerulotubular Nephropathy | 1 | Feb 2, 2022 |
| Glucocorticoid deficiency with achalasia | 3 | Dec 7, 2023 |
| Glucose-6-phosphate transport defect | 2 | Dec 7, 2023 |
| Glutamate pyruvate transaminase 2 deficiency | 2 | Oct 19, 2023 |
| Glutaric aciduria, type 1 | 9 | Nov 23, 2023 |
| Glycogen storage disease IXa1 | 2 | Oct 19, 2023 |
| Glycogen storage disease IXb | 4 | Dec 7, 2023 |
| Glycogen storage disease IXc | 3 | Oct 19, 2023 |
| Glycogen storage disease IXd | 1 | Dec 7, 2023 |
| Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 1 | Nov 24, 2023 |
| Glycogen storage disease type III | 13 | Nov 23, 2023 |
| Glycogen storage disease, type II | 4 | Dec 7, 2023 |
| Glycogen storage disease, type IV | 2 | Feb 2, 2022 |
| Glycogen storage disease, type V | 1 | Feb 2, 2022 |
| Glycogen storage disease, type VI | 11 | Dec 9, 2023 |
| Glycogen storage disorder due to hepatic glycogen synthase deficiency | 3 | Dec 12, 2023 |
| Glycosylphosphatidylinositol biosynthesis defect 15 | 1 | Oct 19, 2023 |
| Glycosylphosphatidylinositol biosynthesis defect 17 | 1 | Feb 2, 2022 |
| Goldberg-Shprintzen syndrome | 1 | Oct 19, 2023 |
| Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | 1 | Nov 24, 2023 |
| Gordon syndrome | 2 | Oct 19, 2023 |
| Granulomatous disease, chronic, X-linked | 1 | Oct 27, 2023 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | 1 | Nov 23, 2023 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 | 1 | Oct 19, 2023 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 | 1 | Oct 19, 2023 |
| Griscelli syndrome type 2 | 3 | Dec 7, 2023 |
| Growth delay due to insulin-like growth factor I resistance | 1 | Oct 27, 2023 |
| Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | 1 | Oct 19, 2023 |
| Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | 1 | Oct 19, 2023 |
| HSD10 mitochondrial disease | 2 | Dec 12, 2023 |
| Hb SS disease | 1 | Oct 19, 2023 |
| Hearing loss, autosomal dominant 80 | 1 | Dec 7, 2023 |
| Hearing loss, autosomal dominant 83 | 2 | Dec 9, 2023 |
| Hearing loss, autosomal recessive 110 | 1 | Dec 12, 2023 |
| Heart and brain malformation syndrome | 1 | Oct 19, 2023 |
| Heart defect - tongue hamartoma - polysyndactyly syndrome | 1 | Oct 19, 2023 |
| Hemolytic anemia due to glucophosphate isomerase deficiency | 3 | Mar 15, 2024 |
| Hengel-Maroofian-Schols syndrome | 1 | Nov 24, 2023 |
| Hennekam lymphangiectasia-lymphedema syndrome 1 | 2 | Dec 12, 2023 |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | 2 | Oct 19, 2023 |
| Hereditary attention deficit-hyperactivity disorder | 2 | Oct 19, 2023 |
| Hereditary diffuse leukoencephalopathy with spheroids | 1 | Feb 2, 2022 |
| Hereditary factor IX deficiency disease | 1 | Feb 2, 2022 |
| Hereditary factor VIII deficiency disease | 8 | Oct 27, 2023 |
| Hereditary factor XI deficiency disease | 5 | Dec 12, 2023 |
| Hereditary insensitivity to pain with anhidrosis | 3 | Nov 23, 2023 |
| Hereditary lymphedema type I | 1 | Oct 19, 2023 |
| Hereditary pancreatitis | 11 | Feb 18, 2024 |
| Hereditary persistence of fetal hemoglobin | 1 | Nov 24, 2023 |
| Hereditary sclerosing poikiloderma with tendon and pulmonary involvement | 1 | Dec 12, 2023 |
| Hereditary sensory and autonomic neuropathy with spastic paraplegia | 1 | Oct 19, 2023 |
| Hereditary sensory neuropathy-deafness-dementia syndrome | 1 | Nov 24, 2023 |
| Hereditary spastic paraplegia 10 | 2 | Oct 19, 2023 |
| Hereditary spastic paraplegia 11 | 17 | Nov 24, 2023 |
| Hereditary spastic paraplegia 15 | 2 | Dec 7, 2023 |
| Hereditary spastic paraplegia 30 | 3 | Nov 3, 2023 |
| Hereditary spastic paraplegia 31 | 1 | Dec 7, 2023 |
| Hereditary spastic paraplegia 35 | 3 | Oct 27, 2023 |
| Hereditary spastic paraplegia 4 | 1 | Oct 19, 2023 |
| Hereditary spastic paraplegia 43 | 3 | Dec 9, 2023 |
| Hereditary spastic paraplegia 46 | 1 | Oct 19, 2023 |
| Hereditary spastic paraplegia 47 | 6 | Dec 7, 2023 |
| Hereditary spastic paraplegia 48 | 2 | Feb 2, 2022 |
| Hereditary spastic paraplegia 49 | 1 | Oct 19, 2023 |
| Hereditary spastic paraplegia 56 | 2 | Dec 12, 2023 |
| Hereditary spastic paraplegia 57 | 1 | Feb 2, 2022 |
| Hereditary spastic paraplegia 6 | 1 | Feb 2, 2022 |
| Hereditary spastic paraplegia 7 | 4 | Dec 12, 2023 |
| Hereditary spastic paraplegia 73 | 1 | Dec 7, 2023 |
| Hereditary spastic paraplegia 74 | 1 | Oct 19, 2023 |
| Hereditary spastic paraplegia 75 | 1 | Oct 19, 2023 |
| Hereditary spastic paraplegia 8 | 3 | Oct 27, 2023 |
| Hereditary spherocytosis type 1 | 10 | Dec 7, 2023 |
| Hereditary spherocytosis type 2 | 12 | Dec 7, 2023 |
| Hereditary spherocytosis type 3 | 2 | Nov 23, 2023 |
| Hereditary spherocytosis type 4 | 1 | Oct 27, 2023 |
| Hereditary xanthinuria type 1 | 2 | Oct 27, 2023 |
| Hermansky-Pudlak syndrome 1 | 2 | Nov 24, 2023 |
| Hermansky-Pudlak syndrome 2 | 1 | Oct 19, 2023 |
| Hermansky-Pudlak syndrome 3 | 1 | Dec 9, 2023 |
| Hermansky-Pudlak syndrome 4 | 1 | Oct 19, 2023 |
| Hermansky-Pudlak syndrome 5 | 1 | Feb 2, 2022 |
| Hermansky-Pudlak syndrome 9 | 1 | Oct 19, 2023 |
| Heterotaxy, visceral, 8, autosomal | 2 | Nov 3, 2023 |
| Heterotopia, periventricular, X-linked dominant | 1 | Oct 19, 2023 |
| Heyn-Sproul-Jackson syndrome | 2 | Jan 9, 2023 |
| Hogue-Janssens syndrome 1 | 1 | Jan 9, 2023 |
| Holocarboxylase synthetase deficiency | 1 | Dec 9, 2023 |
| Holoprosencephaly 11 | 1 | Oct 19, 2023 |
| Holoprosencephaly 9 | 2 | Oct 27, 2023 |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 4 | Nov 3, 2023 |
| Hurler syndrome | 2 | Mar 15, 2024 |
| Hyaline fibromatosis syndrome | 2 | Oct 19, 2023 |
| Hydatidiform mole, recurrent, 1 | 1 | Oct 19, 2023 |
| Hydrocephalus, nonsyndromic, autosomal recessive 2 | 1 | Nov 24, 2023 |
| Hyper-IgE recurrent infection syndrome 1, autosomal dominant | 3 | Oct 19, 2023 |
| Hyperalphalipoproteinemia 1 | 1 | Oct 27, 2023 |
| Hyperammonemia, type III | 1 | Feb 2, 2022 |
| Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | 1 | Dec 9, 2023 |
| Hypercalcemia, infantile, 1 | 1 | Dec 12, 2023 |
| Hypercalcemia, infantile, 2 | 2 | Oct 19, 2023 |
| Hypercholesterolemia, autosomal dominant, type B | 1 | Oct 27, 2023 |
| Hypercholesterolemia, familial, 1 | 5 | Dec 7, 2023 |
| Hyperekplexia 3 | 1 | Oct 19, 2023 |
| Hyperglycinuria | 3 | Nov 24, 2023 |
| Hyperinsulinemic hypoglycemia, familial, 1 | 4 | Nov 23, 2023 |
| Hyperinsulinism due to INSR deficiency | 1 | Dec 9, 2023 |
| Hyperinsulinism-hyperammonemia syndrome | 3 | Oct 27, 2023 |
| Hyperlipoproteinemia, type 1D | 1 | Oct 19, 2023 |
| Hyperlipoproteinemia, type I | 2 | Oct 19, 2023 |
| Hyperparathyroidism, transient neonatal | 1 | Oct 19, 2023 |
| Hyperphosphatasia with intellectual disability syndrome 2 | 1 | Nov 23, 2023 |
| Hyperphosphatasia with intellectual disability syndrome 3 | 1 | Oct 19, 2023 |
| Hypertrophic cardiomyopathy 1 | 1 | Dec 9, 2023 |
| Hypertrophic cardiomyopathy 14 | 3 | Oct 19, 2023 |
| Hypertrophic cardiomyopathy 17 | 1 | Oct 27, 2023 |
| Hypertrophic cardiomyopathy 26 | 2 | Dec 7, 2023 |
| Hypertrophic cardiomyopathy 4 | 4 | Dec 12, 2023 |
| Hypertrophic cardiomyopathy 8 | 1 | Dec 12, 2023 |
| Hypertrophic cardiomyopathy 9 | 1 | Oct 19, 2023 |
| Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 | 2 | Dec 12, 2023 |
| Hypogonadotropic hypogonadism 14 with or without anosmia | 1 | Oct 19, 2023 |
| Hypogonadotropic hypogonadism 2 with or without anosmia | 1 | Feb 2, 2022 |
| Hypogonadotropic hypogonadism 22 with or without anosmia | 1 | Feb 2, 2022 |
| Hypogonadotropic hypogonadism 7 with or without anosmia | 1 | Dec 7, 2023 |
| Hypogonadotropic hypogonadism 8 with or without anosmia | 1 | Feb 2, 2022 |
| Hypohidrotic X-linked ectodermal dysplasia | 1 | Oct 19, 2023 |
| Hypokalemic periodic paralysis, type 2 | 1 | Oct 27, 2023 |
| Hypomagnesemia, seizures, and intellectual disability 1 | 1 | Oct 19, 2023 |
| Hypomyelinating leukodystrophy 10 | 1 | Feb 2, 2022 |
| Hypomyelinating leukodystrophy 11 | 6 | Dec 9, 2023 |
| Hypomyelinating leukodystrophy 13 | 1 | Oct 19, 2023 |
| Hypomyelinating leukodystrophy 2 | 2 | Oct 19, 2023 |
| Hypomyelinating leukodystrophy 3 | 1 | Oct 19, 2023 |
| Hypomyelinating leukodystrophy 6 | 1 | Dec 7, 2023 |
| Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | 2 | Oct 27, 2023 |
| Hypoparathyroidism, deafness, renal disease syndrome | 2 | Dec 12, 2023 |
| Hypoparathyroidism, familial isolated 1 | 1 | Oct 27, 2023 |
| Hypotonia with lactic acidemia and hyperammonemia | 2 | Oct 19, 2023 |
| Hypotonia, ataxia, and delayed development syndrome | 1 | Oct 19, 2023 |
| Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | 1 | Oct 19, 2023 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 3 | Oct 19, 2023 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 1 | Feb 2, 2022 |
| Hypotrichosis 8 | 1 | Dec 9, 2023 |
| Ichthyosis prematurity syndrome | 1 | Oct 19, 2023 |
| Ichthyosis vulgaris | 1 | Dec 9, 2023 |
| Ichthyosis, annular epidermolytic, 2 | 1 | Dec 7, 2023 |
| Ichthyosis, congenital, autosomal recessive 13 | 1 | Oct 19, 2023 |
| Idiopathic basal ganglia calcification 1 | 1 | Oct 19, 2023 |
| Idiopathic generalized epilepsy | 1 | Oct 19, 2023 |
| Imerslund-Grasbeck syndrome type 1 | 1 | Oct 19, 2023 |
| Imerslund-Grasbeck syndrome type 2 | 1 | Oct 19, 2023 |
| Immunodeficiency 14 | 2 | Dec 7, 2023 |
| Immunodeficiency 15a | 1 | Oct 19, 2023 |
| Immunodeficiency 18 | 1 | Oct 19, 2023 |
| Immunodeficiency 23 | 2 | Dec 12, 2023 |
| Immunodeficiency 25 | 1 | Oct 19, 2023 |
| Immunodeficiency 27A | 1 | Oct 19, 2023 |
| Immunodeficiency 36 | 1 | Oct 19, 2023 |
| Immunodeficiency 47 | 2 | Oct 19, 2023 |
| Immunodeficiency 49 | 1 | Dec 7, 2023 |
| Immunodeficiency 51 | 1 | Dec 9, 2023 |
| Immunodeficiency 60 | 1 | Dec 7, 2023 |
| Immunodeficiency 63 with lymphoproliferation and autoimmunity | 1 | Oct 19, 2023 |
| Immunodeficiency 66 | 1 | Dec 9, 2023 |
| Immunodeficiency 72 with autoinflammation | 1 | Oct 19, 2023 |
| Immunodeficiency 83, susceptibility to viral infections | 1 | Oct 19, 2023 |
| Immunodeficiency 89 and autoimmunity | 1 | Nov 24, 2023 |
| Immunodeficiency due to MASP-2 deficiency | 1 | Oct 19, 2023 |
| Immunodeficiency, common variable, 1 | 1 | Oct 19, 2023 |
| Immunodeficiency, common variable, 10 | 3 | Dec 9, 2023 |
| Immunodeficiency, common variable, 12 | 2 | Oct 27, 2023 |
| Immunodeficiency, common variable, 14 | 1 | Oct 19, 2023 |
| Immunodeficiency, common variable, 2 | 1 | Dec 7, 2023 |
| Immunodeficiency, common variable, 7 | 1 | Feb 2, 2022 |
| Immunodeficiency, developmental delay, and hypohomocysteinemia | 2 | Oct 19, 2023 |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | 1 | Dec 12, 2023 |
| Immunoglobulin-mediated membranoproliferative glomerulonephritis | 5 | Oct 27, 2023 |
| Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | 1 | Nov 23, 2023 |
| Infantile GM1 gangliosidosis | 7 | Oct 27, 2023 |
| Infantile cerebellar-retinal degeneration | 1 | Jan 9, 2023 |
| Infantile convulsions and choreoathetosis | 2 | Nov 3, 2023 |
| Infantile hypophosphatasia | 2 | Nov 3, 2023 |
| Infantile neuroaxonal dystrophy | 9 | Nov 23, 2023 |
| Infantile osteopetrosis with neuroaxonal dysplasia | 1 | Oct 19, 2023 |
| Infantile-onset X-linked spinal muscular atrophy | 1 | Oct 19, 2023 |
| Infantile-onset ascending hereditary spastic paralysis | 3 | Nov 3, 2023 |
| Infantile-onset periodic fever-panniculitis-dermatosis syndrome | 1 | Oct 19, 2023 |
| Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 1 | Oct 27, 2023 |
| Intellectual developmental disorder 61 | 1 | Jan 9, 2023 |
| Intellectual developmental disorder and retinitis pigmentosa; IDDRP | 1 | Dec 9, 2023 |
| Intellectual developmental disorder with autistic features and language delay, with or without seizures | 1 | Oct 19, 2023 |
| Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures | 1 | Jan 9, 2023 |
| Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 1 | Dec 12, 2023 |
| Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | 2 | Oct 19, 2023 |
| Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 1 | Oct 19, 2023 |
| Intellectual developmental disorder with macrocephaly, seizures, and speech delay | 1 | Oct 19, 2023 |
| Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | 2 | Oct 19, 2023 |
| Intellectual developmental disorder with poor growth and with or without seizures or ataxia | 1 | Oct 19, 2023 |
| Intellectual developmental disorder with seizures and language delay | 2 | Dec 9, 2023 |
| Intellectual developmental disorder with severe speech and ambulation defects | 1 | Oct 19, 2023 |
| Intellectual developmental disorder with short stature and variable skeletal anomalies | 1 | Dec 7, 2023 |
| Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | 1 | Nov 23, 2023 |
| Intellectual developmental disorder, X-linked 108 | 1 | Jan 9, 2023 |
| Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies | 1 | Dec 7, 2023 |
| Intellectual developmental disorder, autosomal dominant 64 | 4 | Nov 24, 2023 |
| Intellectual developmental disorder, autosomal recessive 68 | 1 | Feb 2, 2022 |
| Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly | 1 | Nov 24, 2023 |
| Intellectual disability, Wolff type | 1 | Feb 2, 2022 |
| Intellectual disability, X-linked 102 | 2 | Oct 19, 2023 |
| Intellectual disability, X-linked 104 | 1 | Oct 19, 2023 |
| Intellectual disability, X-linked 49 | 2 | Oct 19, 2023 |
| Intellectual disability, X-linked 61 | 1 | Oct 19, 2023 |
| Intellectual disability, X-linked 93 | 1 | Oct 19, 2023 |
| Intellectual disability, X-linked 96 | 1 | Nov 24, 2023 |
| Intellectual disability, X-linked 99, syndromic, female-restricted | 2 | Oct 27, 2023 |
| Intellectual disability, X-linked syndromic, Turner type | 2 | Oct 27, 2023 |
| Intellectual disability, X-linked, syndromic 33 | 2 | Oct 19, 2023 |
| Intellectual disability, X-linked, syndromic, Bain type | 1 | Oct 19, 2023 |
| Intellectual disability, X-linked, with or without seizures, arx-related | 1 | Feb 2, 2022 |
| Intellectual disability, autosomal dominant 1 | 4 | Oct 19, 2023 |
| Intellectual disability, autosomal dominant 13 | 9 | Nov 24, 2023 |
| Intellectual disability, autosomal dominant 16 | 1 | Nov 23, 2023 |
| Intellectual disability, autosomal dominant 20 | 2 | Oct 19, 2023 |
| Intellectual disability, autosomal dominant 24 | 1 | Oct 27, 2023 |
| Intellectual disability, autosomal dominant 29 | 2 | Jan 9, 2023 |
| Intellectual disability, autosomal dominant 39 | 2 | Feb 2, 2022 |
| Intellectual disability, autosomal dominant 43 | 1 | Nov 24, 2023 |
| Intellectual disability, autosomal dominant 45 | 3 | Oct 19, 2023 |
| Intellectual disability, autosomal dominant 46 | 2 | Nov 23, 2023 |
| Intellectual disability, autosomal dominant 5 | 4 | Oct 27, 2023 |
| Intellectual disability, autosomal dominant 52 | 3 | Dec 7, 2023 |
| Intellectual disability, autosomal dominant 53 | 1 | Jan 9, 2023 |
| Intellectual disability, autosomal dominant 54 | 2 | Dec 12, 2023 |
| Intellectual disability, autosomal dominant 55, with seizures | 2 | Jan 9, 2023 |
| Intellectual disability, autosomal dominant 58 | 1 | Oct 19, 2023 |
| Intellectual disability, autosomal dominant 6 | 1 | Oct 19, 2023 |
| Intellectual disability, autosomal dominant 8 | 3 | Dec 7, 2023 |
| Intellectual disability, autosomal dominant 9 | 5 | Nov 24, 2023 |
| Intellectual disability, autosomal recessive 13 | 2 | Dec 9, 2023 |
| Intellectual disability, autosomal recessive 3 | 1 | Oct 19, 2023 |
| Intellectual disability, autosomal recessive 42 | 3 | Dec 7, 2023 |
| Intellectual disability, autosomal recessive 53 | 1 | Oct 19, 2023 |
| Intellectual disability, autosomal recessive 57 | 1 | Dec 7, 2023 |
| Intellectual disability-epilepsy-extrapyramidal syndrome | 2 | Oct 27, 2023 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 3 | Nov 24, 2023 |
| Intellectual disability-hypotonia-spasticity-sleep disorder syndrome | 6 | Feb 18, 2024 |
| Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 1 | Feb 2, 2022 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 3 | Oct 19, 2023 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 4 | Oct 19, 2023 |
| Interstitial lung disease due to ABCA3 deficiency | 1 | Oct 19, 2023 |
| Intestinal hypomagnesemia 1 | 1 | Oct 19, 2023 |
| Isolated focal cortical dysplasia type II | 1 | Dec 12, 2023 |
| Isolated growth hormone deficiency, type 4 | 1 | Nov 3, 2023 |
| Isolated neonatal sclerosing cholangitis | 1 | Feb 2, 2022 |
| Isovaleryl-CoA dehydrogenase deficiency | 2 | Feb 2, 2022 |
| Joubert syndrome 1 | 2 | Oct 27, 2023 |
| Joubert syndrome 10 | 1 | Dec 7, 2023 |
| Joubert syndrome 15 | 1 | Jan 9, 2023 |
| Joubert syndrome 17 | 1 | Feb 2, 2022 |
| Joubert syndrome 21 | 1 | Feb 2, 2022 |
| Joubert syndrome 23 | 3 | Dec 7, 2023 |
| Joubert syndrome 3 | 3 | Nov 24, 2023 |
| Joubert syndrome 33 | 1 | Oct 27, 2023 |
| Joubert syndrome 37 | 1 | Nov 24, 2023 |
| Joubert syndrome 5 | 4 | Dec 12, 2023 |
| Joubert syndrome 7 | 1 | Oct 19, 2023 |
| Joubert syndrome 9 | 1 | Dec 9, 2023 |
| Junctional epidermolysis bullosa gravis of Herlitz | 8 | Oct 30, 2023 |
| Junctional epidermolysis bullosa with pyloric atresia | 3 | Nov 3, 2023 |
| Junctional epidermolysis bullosa, non-Herlitz type | 7 | Oct 27, 2023 |
| KBG syndrome | 5 | Nov 23, 2023 |
| Kabuki syndrome 1 | 2 | Dec 12, 2023 |
| Kabuki syndrome 2 | 1 | Oct 19, 2023 |
| Keipert syndrome | 1 | Oct 19, 2023 |
| Kindler syndrome | 1 | Feb 2, 2022 |
| Kleefstra syndrome 1 | 2 | Oct 19, 2023 |
| Kleefstra syndrome 2 | 1 | Oct 19, 2023 |
| Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | 1 | Dec 12, 2023 |
| Knobloch syndrome 1 | 1 | Dec 9, 2023 |
| Koolen-de Vries syndrome | 2 | Oct 27, 2023 |
| Kufor-Rakeb syndrome | 1 | Oct 19, 2023 |
| L-2-hydroxyglutaric aciduria | 3 | Oct 27, 2023 |
| LAMB2-related infantile-onset nephrotic syndrome | 3 | Oct 27, 2023 |
| LEOPARD syndrome 1 | 1 | Dec 12, 2023 |
| Lafora disease | 3 | Oct 19, 2023 |
| Landau-Kleffner syndrome | 3 | Jan 9, 2023 |
| Laron-type isolated somatotropin defect | 2 | Oct 19, 2023 |
| Larsen syndrome | 1 | Oct 19, 2023 |
| Lattice corneal dystrophy Type I | 1 | Nov 24, 2023 |
| Leber congenital amaurosis 1 | 3 | Oct 27, 2023 |
| Leber congenital amaurosis 14 | 1 | Dec 12, 2023 |
| Leber congenital amaurosis 2 | 2 | Nov 3, 2023 |
| Leber congenital amaurosis 9 | 1 | Oct 19, 2023 |
| Left ventricular noncompaction 1 | 2 | Oct 27, 2023 |
| Left ventricular noncompaction 10 | 2 | Nov 3, 2023 |
| Lethal Kniest-like syndrome | 2 | Oct 19, 2023 |
| Lethal congenital contracture syndrome 1 | 1 | Nov 23, 2023 |
| Lethal congenital contracture syndrome 2 | 1 | Oct 19, 2023 |
| Lethal congenital contracture syndrome 7 | 1 | Dec 12, 2023 |
| Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | 1 | Dec 7, 2023 |
| Lethal multiple pterygium syndrome | 1 | Nov 23, 2023 |
| Lethal tight skin contracture syndrome | 1 | Dec 12, 2023 |
| Leukocyte adhesion deficiency 1 | 2 | Oct 19, 2023 |
| Leukocyte adhesion deficiency 3 | 3 | Oct 19, 2023 |
| Leukocyte adhesion deficiency type II | 1 | Feb 2, 2022 |
| Leukodystrophy and acquired microcephaly with or without dystonia; | 2 | Oct 19, 2023 |
| Leukodystrophy, hypomyelinating, 16 | 2 | Nov 24, 2023 |
| Leukodystrophy, hypomyelinating, 17 | 1 | Nov 24, 2023 |
| Leukodystrophy, hypomyelinating, 18 | 1 | Oct 19, 2023 |
| Leukodystrophy, hypomyelinating, 19, transient infantile | 1 | Oct 19, 2023 |
| Leukodystrophy, hypomyelinating, 20 | 2 | Jan 9, 2023 |
| Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | 1 | Oct 19, 2023 |
| Leukoencephalopathy with mild cerebellar ataxia and white matter edema | 1 | Dec 7, 2023 |
| Leukoencephalopathy with vanishing white matter 1 | 8 | Nov 3, 2023 |
| Leukoencephalopathy with vanishing white matter 3 | 1 | Nov 24, 2023 |
| Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate | 1 | Oct 19, 2023 |
| Leukoencephalopathy, progressive, infantile-onset, with or without deafness | 1 | Jan 27, 2023 |
| Leukoencephalopathy, progressive, with ovarian failure | 2 | Oct 19, 2023 |
| Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | 2 | Dec 9, 2023 |
| Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome | 2 | Dec 12, 2023 |
| Lewy body dementia | 1 | Feb 18, 2024 |
| Leydig cell agenesis | 1 | Feb 2, 2022 |
| Li-Fraumeni syndrome 1 | 6 | Oct 19, 2023 |
| Li-Fraumeni syndrome 2 | 1 | Oct 19, 2023 |
| Liberfarb syndrome | 1 | Feb 2, 2022 |
| Lipid proteinosis | 2 | Mar 18, 2024 |
| Lipoyl transferase 1 deficiency | 2 | Nov 3, 2023 |
| Lissencephaly 10 | 2 | Dec 7, 2023 |
| Lissencephaly 9 with complex brainstem malformation | 3 | Dec 7, 2023 |
| Lissencephaly due to LIS1 mutation | 1 | Oct 27, 2023 |
| Lissencephaly due to TUBA1A mutation | 2 | Jan 9, 2023 |
| Lissencephaly type 1 due to doublecortin gene mutation | 3 | Oct 19, 2023 |
| Loeys-Dietz syndrome 2 | 1 | Oct 19, 2023 |
| Loeys-Dietz syndrome 4 | 1 | Dec 12, 2023 |
| Long QT syndrome 1 | 2 | Oct 19, 2023 |
| Long QT syndrome 3 | 2 | Nov 3, 2023 |
| Long QT syndrome 6 | 1 | Feb 2, 2022 |
| Long qt syndrome 8 | 4 | Nov 3, 2023 |
| Lowe syndrome | 4 | Nov 23, 2023 |
| Lung cancer | 1 | Feb 2, 2022 |
| Luscan-Lumish syndrome | 1 | Nov 24, 2023 |
| Lymphatic malformation 3 | 1 | Dec 7, 2023 |
| Lymphatic malformation 6 | 2 | Nov 23, 2023 |
| Lymphoproliferative syndrome 1 | 1 | Feb 2, 2022 |
| Lynch syndrome 1 | 10 | Dec 12, 2023 |
| Lynch syndrome 4 | 6 | Nov 24, 2023 |
| Lynch syndrome 5 | 9 | Dec 7, 2023 |
| Lysosomal acid lipase deficiency | 3 | Oct 19, 2023 |
| MEDNIK syndrome | 1 | Dec 9, 2023 |
| MEGF10-related myopathy | 2 | Oct 19, 2023 |
| MEGF8-related Carpenter syndrome | 2 | Nov 24, 2023 |
| MEHMO syndrome | 3 | Nov 24, 2023 |
| MEND syndrome | 1 | Dec 12, 2023 |
| MOGS-congenital disorder of glycosylation | 2 | Oct 27, 2023 |
| MYPN-related myopathy | 1 | Oct 19, 2023 |
| Macrocephaly, dysmorphic facies, and psychomotor retardation | 1 | Dec 7, 2023 |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 5 | Dec 12, 2023 |
| Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | 1 | Oct 19, 2023 |
| Macular degeneration, X-linked atrophic | 1 | Oct 19, 2023 |
| Malan overgrowth syndrome | 2 | Dec 7, 2023 |
| Malignant tumor of prostate | 1 | Dec 7, 2023 |
| Mandibuloacral dysplasia progeroid syndrome | 1 | Oct 27, 2023 |
| Mandibuloacral dysplasia with type A lipodystrophy | 1 | Dec 7, 2023 |
| Maple syrup urine disease | 8 | Dec 9, 2023 |
| Marden-Walker syndrome | 1 | Oct 19, 2023 |
| Marfan syndrome | 7 | Oct 27, 2023 |
| Marshall-Smith syndrome | 1 | Oct 19, 2023 |
| Maturity-onset diabetes of the young type 4 | 1 | Feb 2, 2022 |
| Meckel syndrome, type 2 | 1 | Nov 24, 2023 |
| Meckel syndrome, type 3 | 1 | Oct 19, 2023 |
| Meckel syndrome, type 5 | 1 | Oct 19, 2023 |
| Meckel syndrome, type 6 | 3 | Nov 3, 2023 |
| Meckel syndrome, type 9 | 1 | Nov 24, 2023 |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2 | Oct 27, 2023 |
| Megaconial type congenital muscular dystrophy | 2 | Oct 19, 2023 |
| Megalencephalic leukoencephalopathy with subcortical cysts 1 | 1 | Dec 9, 2023 |
| Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability | 1 | Jan 9, 2023 |
| Megalencephaly-capillary malformation-polymicrogyria syndrome | 1 | Feb 2, 2022 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 2 | Nov 24, 2023 |
| Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 1 | Oct 19, 2023 |
| Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency | 4 | Oct 19, 2023 |
| Menke-Hennekam syndrome 1 | 3 | Dec 7, 2023 |
| Menkes kinky-hair syndrome | 1 | Nov 24, 2023 |
| Meretoja syndrome | 1 | Oct 19, 2023 |
| Merosin deficient congenital muscular dystrophy | 5 | Nov 24, 2023 |
| Metachromatic leukodystrophy | 13 | Dec 7, 2023 |
| Methylcobalamin deficiency type cblE | 1 | Oct 27, 2023 |
| Methylcobalamin deficiency type cblG | 1 | Feb 2, 2022 |
| Methylmalonic acidemia with homocystinuria, type cblJ | 2 | Oct 19, 2023 |
| Methylmalonic aciduria and homocystinuria type cblF | 1 | Oct 27, 2023 |
| Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 5 | Nov 24, 2023 |
| Methylmalonic aciduria, cblB type | 1 | Oct 19, 2023 |
| Mevalonic aciduria | 2 | Dec 7, 2023 |
| Microcephalic osteodysplastic primordial dwarfism type II | 6 | Nov 24, 2023 |
| Microcephaly 14, primary, autosomal recessive | 1 | Oct 19, 2023 |
| Microcephaly 15, primary, autosomal recessive | 1 | Feb 2, 2022 |
| Microcephaly 20, primary, autosomal recessive | 1 | Nov 24, 2023 |
| Microcephaly 21, primary, autosomal recessive | 1 | Nov 23, 2023 |
| Microcephaly 26, primary, autosomal dominant | 1 | Feb 2, 2022 |
| Microcephaly 3, primary, autosomal recessive | 1 | Nov 24, 2023 |
| Microcephaly 4, primary, autosomal recessive | 2 | Oct 19, 2023 |
| Microcephaly 5, primary, autosomal recessive | 3 | Nov 23, 2023 |
| Microcephaly 7, primary, autosomal recessive | 2 | Dec 7, 2023 |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 1 | Dec 9, 2023 |
| Microcephaly, growth deficiency, seizures, and brain malformations | 1 | Oct 19, 2023 |
| Microcephaly, normal intelligence and immunodeficiency | 1 | Oct 19, 2023 |
| Microcephaly, seizures, and developmental delay | 4 | Oct 19, 2023 |
| Microcephaly-capillary malformation syndrome | 1 | Dec 9, 2023 |
| Microcephaly-thin corpus callosum-intellectual disability syndrome | 2 | Oct 19, 2023 |
| Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma | 2 | Oct 19, 2023 |
| Migraine, familial hemiplegic, 1 | 3 | Nov 23, 2023 |
| Miller syndrome | 1 | Oct 19, 2023 |
| Mismatch repair cancer syndrome 4 | 1 | Oct 27, 2023 |
| Mitchell syndrome | 1 | Oct 19, 2023 |
| Mitochondrial DNA depletion syndrome 13 | 1 | Nov 24, 2023 |
| Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | 1 | Oct 19, 2023 |
| Mitochondrial DNA depletion syndrome 20 (mngie type) | 1 | Oct 19, 2023 |
| Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | 1 | Feb 2, 2022 |
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 3 | Nov 3, 2023 |
| Mitochondrial DNA depletion syndrome, myopathic form | 2 | Nov 3, 2023 |
| Mitochondrial complex 1 deficiency, nuclear type 16 | 1 | Jan 9, 2023 |
| Mitochondrial complex 1 deficiency, nuclear type 17 | 3 | Oct 27, 2023 |
| Mitochondrial complex 1 deficiency, nuclear type 18 | 1 | Oct 19, 2023 |
| Mitochondrial complex 1 deficiency, nuclear type 19 | 1 | Oct 19, 2023 |
| Mitochondrial complex 1 deficiency, nuclear type 21 | 2 | Dec 7, 2023 |
| Mitochondrial complex 1 deficiency, nuclear type 4 | 4 | Dec 12, 2023 |
| Mitochondrial complex 1 deficiency, nuclear type 5 | 5 | Dec 7, 2023 |
| Mitochondrial complex 1 deficiency, nuclear type 7 | 1 | Mar 18, 2024 |
| Mitochondrial complex 1 deficiency, nuclear type 8 | 1 | Feb 2, 2022 |
| Mitochondrial complex 2 deficiency, nuclear type 2 | 1 | Oct 19, 2023 |
| Mitochondrial complex 2 deficiency, nuclear type 4 | 1 | Feb 2, 2022 |
| Mitochondrial complex I deficiency, nuclear type 1 | 2 | Dec 9, 2023 |
| Mitochondrial complex II deficiency, nuclear type 1 | 1 | Oct 19, 2023 |
| Mitochondrial complex III deficiency nuclear type 2 | 4 | Nov 3, 2023 |
| Mitochondrial complex III deficiency nuclear type 8 | 1 | Oct 19, 2023 |
| Mitochondrial complex IV deficiency, nuclear type 1 | 5 | Dec 12, 2023 |
| Mitochondrial pyruvate carrier deficiency | 1 | Oct 27, 2023 |
| Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | 1 | Jan 9, 2023 |
| Miyoshi muscular dystrophy 1 | 5 | Oct 19, 2023 |
| Monocytopenia with susceptibility to infections | 1 | Oct 19, 2023 |
| Mosaic variegated aneuploidy syndrome 1 | 1 | Oct 19, 2023 |
| Mowat-Wilson syndrome | 4 | Oct 27, 2023 |
| Moyamoya disease 2 | 1 | Oct 19, 2023 |
| Mucolipidosis type II | 1 | Feb 2, 2022 |
| Mucopolysaccharidosis type 6 | 2 | Nov 23, 2023 |
| Mucopolysaccharidosis type 7 | 1 | Dec 9, 2023 |
| Mucopolysaccharidosis, MPS-I-H/S | 2 | Dec 9, 2023 |
| Mucopolysaccharidosis, MPS-I-S | 1 | Oct 19, 2023 |
| Mucopolysaccharidosis, MPS-II | 7 | Oct 27, 2023 |
| Mucopolysaccharidosis, MPS-III-A | 3 | Dec 12, 2023 |
| Mucopolysaccharidosis, MPS-III-B | 3 | Dec 12, 2023 |
| Mucopolysaccharidosis, MPS-III-C | 1 | Jan 9, 2023 |
| Mucopolysaccharidosis, MPS-IV-A | 12 | Nov 24, 2023 |
| Mucopolysaccharidosis, type 10 | 1 | Nov 24, 2023 |
| Muir-Torré syndrome | 3 | Dec 9, 2023 |
| Mullegama-Klein-Martinez syndrome | 1 | Nov 23, 2023 |
| Multiple acyl-CoA dehydrogenase deficiency | 3 | Dec 12, 2023 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 1 | Oct 27, 2023 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 1 | Nov 23, 2023 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 2 | Nov 3, 2023 |
| Multiple congenital anomalies-neurodevelopmental syndrome, X-linked | 1 | Nov 23, 2023 |
| Multiple congenital exostosis | 1 | Feb 2, 2022 |
| Multiple endocrine neoplasia, type 1 | 1 | Feb 2, 2022 |
| Multiple epiphyseal dysplasia type 1 | 2 | Oct 27, 2023 |
| Multiple epiphyseal dysplasia type 5 | 1 | Feb 2, 2022 |
| Multiple gastrointestinal atresias | 1 | Feb 2, 2022 |
| Multiple mitochondrial dysfunctions syndrome 2 | 3 | Nov 23, 2023 |
| Multiple mitochondrial dysfunctions syndrome 3 | 4 | Oct 27, 2023 |
| Multiple mitochondrial dysfunctions syndrome 5 | 1 | Oct 19, 2023 |
| Multiple mitochondrial dysfunctions syndrome 6 | 1 | Oct 19, 2023 |
| Multiple sulfatase deficiency | 2 | Dec 12, 2023 |
| Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome | 1 | Jan 9, 2023 |
| Muscular dystrophy, limb-girdle, autosomal dominant 4 | 1 | Oct 19, 2023 |
| Muscular dystrophy, limb-girdle, autosomal recessive 23 | 7 | Oct 27, 2023 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | 1 | Dec 9, 2023 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 | 1 | Feb 2, 2022 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 2 | Nov 24, 2023 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | 1 | Oct 19, 2023 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | 1 | Feb 2, 2022 |
| Muscular dystrophy-dystroglycanopathy type B6 | 3 | Dec 12, 2023 |
| Myasthenic syndrome, congenital, 1B, fast-channel | 1 | Oct 19, 2023 |
| Myasthenic syndrome, congenital, 24, presynaptic | 2 | Dec 12, 2023 |
| Myoclonic dystonia 11 | 1 | Oct 19, 2023 |
| Myoclonic-astatic epilepsy | 2 | Oct 19, 2023 |
| Myoclonus, intractable, neonatal | 1 | Nov 23, 2023 |
| Myofibrillar myopathy 3 | 1 | Nov 3, 2023 |
| Myofibrillar myopathy 4 | 1 | Oct 19, 2023 |
| Myofibrillar myopathy 6 | 2 | Oct 19, 2023 |
| Myofibrillar myopathy 8 | 1 | Oct 19, 2023 |
| Myopathy, congenital, with structured cores and z-line abnormalities | 1 | Dec 7, 2023 |
| Myopathy, distal, with rimmed vacuoles | 1 | Oct 19, 2023 |
| Myopathy, myofibrillar, 9, with early respiratory failure | 1 | Oct 19, 2023 |
| Myopathy, tubular aggregate, 1 | 1 | Oct 19, 2023 |
| Myosclerosis | 1 | Dec 7, 2023 |
| Myosin storage myopathy | 2 | Oct 19, 2023 |
| NAD(P)HX dehydratase deficiency | 2 | Oct 19, 2023 |
| NPHP3-related Meckel-like syndrome | 1 | Oct 19, 2023 |
| Nail-patella syndrome | 1 | Feb 2, 2022 |
| Nemaline myopathy 10 | 1 | Dec 9, 2023 |
| Nemaline myopathy 2 | 6 | Dec 9, 2023 |
| Nemaline myopathy 5 | 1 | Jan 9, 2023 |
| Nemaline myopathy 6 | 1 | Dec 7, 2023 |
| Nemaline myopathy 8 | 1 | Nov 24, 2023 |
| Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | 1 | Feb 2, 2022 |
| Neonatal intrahepatic cholestasis due to citrin deficiency | 1 | Oct 19, 2023 |
| Neonatal severe primary hyperparathyroidism | 1 | Oct 19, 2023 |
| Neonatal-onset encephalopathy with rigidity and seizures | 1 | Dec 12, 2023 |
| Nephronophthisis 1 | 1 | Oct 27, 2023 |
| Nephronophthisis 13 | 1 | Oct 27, 2023 |
| Nephronophthisis 14 | 1 | Dec 7, 2023 |
| Nephronophthisis 15 | 1 | Oct 19, 2023 |
| Nephronophthisis 4 | 1 | Dec 9, 2023 |
| Nephropathic cystinosis | 5 | Oct 27, 2023 |
| Nephrotic syndrome | 1 | Feb 2, 2022 |
| Nephrotic syndrome, type 12 | 2 | Oct 19, 2023 |
| Nephrotic syndrome, type 2 | 4 | Oct 27, 2023 |
| Nephrotic syndrome, type 20 | 2 | Oct 19, 2023 |
| Nephrotic syndrome, type 3 | 5 | Dec 7, 2023 |
| Nephrotic syndrome, type 4 | 1 | Oct 19, 2023 |
| Netherton syndrome | 1 | Oct 19, 2023 |
| Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 1 | Oct 19, 2023 |
| Neurodegeneration with brain iron accumulation 2B | 7 | Nov 3, 2023 |
| Neurodegeneration with brain iron accumulation 4 | 1 | Oct 19, 2023 |
| Neurodegeneration with brain iron accumulation 6 | 2 | Dec 9, 2023 |
| Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | 1 | Oct 19, 2023 |
| Neurodegeneration, childhood-onset, with cerebellar atrophy | 1 | Oct 19, 2023 |
| Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia | 1 | Oct 19, 2023 |
| Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | 3 | Nov 24, 2023 |
| Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | 1 | Jan 9, 2023 |
| Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism | 1 | Jan 9, 2023 |
| Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | 1 | Dec 7, 2023 |
| Neurodevelopmental disorder with dysmorphic facies and variable seizures | 1 | Oct 19, 2023 |
| Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum | 1 | Feb 2, 2022 |
| Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination | 3 | Nov 23, 2023 |
| Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities | 1 | Oct 19, 2023 |
| Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | 4 | Nov 24, 2023 |
| Neurodevelopmental disorder with hypotonia, seizures, and absent language | 3 | Nov 23, 2023 |
| Neurodevelopmental disorder with impaired speech and hyperkinetic movements | 2 | Oct 19, 2023 |
| Neurodevelopmental disorder with involuntary movements | 1 | Oct 19, 2023 |
| Neurodevelopmental disorder with language impairment and behavioral abnormalities | 1 | Jan 9, 2023 |
| Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies | 1 | Nov 23, 2023 |
| Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity | 2 | Feb 18, 2024 |
| Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | 1 | Oct 19, 2023 |
| Neurodevelopmental disorder with microcephaly, short stature, and speech delay | 1 | Oct 19, 2023 |
| Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | 1 | Oct 27, 2023 |
| Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 3 | Oct 19, 2023 |
| Neurodevelopmental disorder with or without early-onset generalized epilepsy | 2 | Nov 23, 2023 |
| Neurodevelopmental disorder with or without seizures and gait abnormalities | 1 | Oct 19, 2023 |
| Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | 4 | Nov 23, 2023 |
| Neurodevelopmental disorder with poor language and loss of hand skills | 1 | Oct 19, 2023 |
| Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | 1 | Dec 7, 2023 |
| Neurodevelopmental disorder with severe motor impairment and absent language | 3 | Nov 24, 2023 |
| Neurodevelopmental disorder with speech impairment and dysmorphic facies | 2 | Dec 7, 2023 |
| Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | 1 | Feb 2, 2022 |
| Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus | 1 | Mar 18, 2024 |
| Neurofibromatosis, type 1 | 13 | Dec 7, 2023 |
| Neurofibromatosis-Noonan syndrome | 1 | Oct 19, 2023 |
| Neuromuscular disease | 1 | Jan 9, 2023 |
| Neuromuscular disease and ocular or auditory anomalies with or without seizures | 1 | Oct 19, 2023 |
| Neuronal ceroid lipofuscinosis 1 | 1 | Jan 9, 2023 |
| Neuronal ceroid lipofuscinosis 2 | 4 | Oct 19, 2023 |
| Neuronal ceroid lipofuscinosis 3 | 2 | Nov 24, 2023 |
| Neuronal ceroid lipofuscinosis 5 | 3 | Oct 19, 2023 |
| Neuronal ceroid lipofuscinosis 7 | 5 | Feb 18, 2024 |
| Neuronal ceroid lipofuscinosis 8 | 1 | Jan 9, 2023 |
| Neuronopathy, distal hereditary motor, autosomal dominant 8 | 1 | Oct 19, 2023 |
| Neuronopathy, distal hereditary motor, autosomal recessive 8 | 1 | Nov 24, 2023 |
| Neuronopathy, distal hereditary motor, type 2D | 1 | Feb 2, 2022 |
| Neuronopathy, distal hereditary motor, type 5A | 1 | Feb 2, 2022 |
| Neuronopathy, distal hereditary motor, type 5C | 1 | Dec 7, 2023 |
| Neuronopathy, distal hereditary motor, type 7B | 2 | Oct 27, 2023 |
| Neuropathy, congenital hypomyelinating, 3 | 1 | Dec 9, 2023 |
| Neuropathy, hereditary motor and sensory, type 6A | 1 | Oct 19, 2023 |
| Neutropenia, severe congenital, 8, autosomal dominant | 1 | Dec 12, 2023 |
| Nicolaides-Baraitser syndrome | 1 | Oct 19, 2023 |
| Niemann-Pick disease, type A | 5 | Nov 3, 2023 |
| Niemann-Pick disease, type B | 3 | Oct 19, 2023 |
| Niemann-Pick disease, type C1 | 10 | Dec 12, 2023 |
| Niemann-Pick disease, type C2 | 2 | Oct 19, 2023 |
| Nijmegen breakage syndrome-like disorder | 2 | Oct 27, 2023 |
| Noonan syndrome 1 | 5 | Dec 12, 2023 |
| Noonan syndrome 10 | 2 | Dec 12, 2023 |
| Noonan syndrome 2 | 2 | Oct 30, 2023 |
| Noonan syndrome 4 | 3 | Oct 19, 2023 |
| Noonan syndrome 5 | 2 | Oct 19, 2023 |
| Noonan syndrome 7 | 2 | Oct 19, 2023 |
| Noonan syndrome-like disorder with loose anagen hair 1 | 1 | Nov 24, 2023 |
| Normal pressure hydrocephalus | 1 | Oct 19, 2023 |
| Norum disease | 1 | Oct 19, 2023 |
| O'Donnell-Luria-Rodan syndrome | 3 | Nov 30, 2023 |
| Ocular albinism, type II | 1 | Dec 7, 2023 |
| Oculocerebrofacial syndrome, Kaufman type | 1 | Oct 19, 2023 |
| Oculocutaneous albinism type 1B | 3 | Oct 19, 2023 |
| Oculocutaneous albinism type 3 | 1 | Oct 27, 2023 |
| Oculocutaneous albinism type 4 | 2 | Oct 19, 2023 |
| Oculofaciocardiodental syndrome | 1 | Oct 19, 2023 |
| Odontochondrodysplasia 1 | 1 | Dec 9, 2023 |
| Oguchi disease-1 | 1 | Feb 2, 2022 |
| Oguchi disease-2 | 1 | Dec 12, 2023 |
| Oligodontia-cancer predisposition syndrome | 1 | Dec 7, 2023 |
| Oocyte maturation defect 3 | 1 | Nov 23, 2023 |
| Ornithine aminotransferase deficiency | 1 | Oct 19, 2023 |
| Ornithine carbamoyltransferase deficiency | 3 | Oct 27, 2023 |
| Orofaciodigital syndrome type 14 | 1 | Oct 19, 2023 |
| Orofaciodigital syndrome type 6 | 1 | Dec 7, 2023 |
| Osteogenesis imperfecta type 10 | 1 | Oct 19, 2023 |
| Osteogenesis imperfecta type 11 | 1 | Oct 19, 2023 |
| Osteogenesis imperfecta type 6 | 2 | Oct 27, 2023 |
| Osteogenesis imperfecta type 7 | 2 | Oct 19, 2023 |
| Osteogenesis imperfecta type 8 | 5 | Nov 3, 2023 |
| Osteogenesis imperfecta type I | 4 | Dec 7, 2023 |
| Osteogenesis imperfecta type III | 1 | Oct 19, 2023 |
| Osteogenesis imperfecta with normal sclerae, dominant form | 1 | Oct 19, 2023 |
| Osteogenesis imperfecta, perinatal lethal | 4 | Oct 27, 2023 |
| Osteoporosis | 1 | Dec 12, 2023 |
| Osteoporosis with pseudoglioma | 2 | Oct 19, 2023 |
| Otofaciocervical syndrome 2 | 1 | Oct 19, 2023 |
| Otospondylomegaepiphyseal dysplasia, autosomal recessive | 2 | Oct 19, 2023 |
| Ovarian dysgenesis 9 | 1 | Nov 23, 2023 |
| PERCHING syndrome | 1 | Jan 9, 2023 |
| PLIN1-related familial partial lipodystrophy | 1 | Feb 2, 2022 |
| PMM2-congenital disorder of glycosylation | 1 | Oct 19, 2023 |
| PYCR1-related de Barsy syndrome | 1 | Nov 23, 2023 |
| Pachyonychia congenita 3 | 1 | Feb 2, 2022 |
| Palmoplantar keratoderma, nonepidermolytic, focal 1 | 1 | Dec 7, 2023 |
| Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome | 1 | Oct 19, 2023 |
| Palmoplantar keratoderma-deafness syndrome | 1 | Oct 27, 2023 |
| Pancreatic cancer, susceptibility to, 3 | 1 | Oct 19, 2023 |
| Pancytopenia-developmental delay syndrome | 1 | Oct 27, 2023 |
| Papillary renal cell carcinoma type 1 | 1 | Oct 19, 2023 |
| Paragangliomas 3 | 1 | Oct 19, 2023 |
| Paramyotonia congenita of Von Eulenburg | 2 | Dec 7, 2023 |
| Parenti-mignot neurodevelopmental syndrome | 1 | Dec 7, 2023 |
| Parkinson disease 18, autosomal dominant, susceptibility to | 1 | Dec 7, 2023 |
| Parkinson disease 24, autosomal dominant, susceptibility to | 1 | Oct 19, 2023 |
| Parkinson disease, late-onset | 3 | Dec 12, 2023 |
| Parkinsonian-pyramidal syndrome | 1 | Oct 19, 2023 |
| Parkinsonism with polyneuropathy | 1 | Feb 18, 2024 |
| Parkinsonism-dystonia, infantile, 2 | 1 | Oct 27, 2023 |
| Paroxysmal nonkinesigenic dyskinesia 1 | 3 | Oct 27, 2023 |
| Patterned macular dystrophy 3 | 1 | Oct 27, 2023 |
| Peeling skin syndrome 5 | 1 | Oct 19, 2023 |
| Pelizaeus-Merzbacher disease | 2 | Oct 19, 2023 |
| Pendred syndrome | 1 | Oct 19, 2023 |
| Periodic fever-infantile enterocolitis-autoinflammatory syndrome | 1 | Dec 7, 2023 |
| Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | 1 | Oct 19, 2023 |
| Periventricular heterotopia with microcephaly, autosomal recessive | 1 | Oct 19, 2023 |
| Periventricular nodular heterotopia 9 | 1 | Oct 19, 2023 |
| Perlman syndrome | 1 | Oct 19, 2023 |
| Peroxisome biogenesis disorder 10A (Zellweger) | 1 | Oct 27, 2023 |
| Peroxisome biogenesis disorder 14B | 2 | Nov 3, 2023 |
| Peroxisome biogenesis disorder 1A (Zellweger) | 1 | Jan 9, 2023 |
| Peroxisome biogenesis disorder 1B | 1 | Oct 19, 2023 |
| Peroxisome biogenesis disorder 4A (Zellweger) | 3 | Oct 19, 2023 |
| Peroxisome biogenesis disorder 4B | 3 | Oct 19, 2023 |
| Peroxisome biogenesis disorder 7A (Zellweger) | 1 | Feb 2, 2022 |
| Peroxisome biogenesis disorder type 3B | 1 | Oct 19, 2023 |
| Perrault syndrome 4 | 1 | Oct 19, 2023 |
| Perrault syndrome 5 | 1 | Nov 24, 2023 |
| Peutz-Jeghers syndrome | 3 | Oct 19, 2023 |
| Pfeiffer syndrome | 2 | Oct 19, 2023 |
| Phelan-McDermid syndrome | 2 | Dec 7, 2023 |
| Phenylketonuria | 4 | Oct 27, 2023 |
| Pheochromocytoma | 1 | Dec 7, 2023 |
| Pierson syndrome | 4 | Nov 24, 2023 |
| Pigmentary pallidal degeneration | 11 | Mar 8, 2024 |
| Pili torti-developmental delay-neurological abnormalities syndrome | 1 | Oct 19, 2023 |
| Platelet-type bleeding disorder 10 | 2 | Nov 24, 2023 |
| Platelet-type bleeding disorder 15 | 1 | Dec 7, 2023 |
| Platelet-type bleeding disorder 16 | 4 | Dec 7, 2023 |
| Platelet-type bleeding disorder 17 | 1 | Oct 19, 2023 |
| Platelet-type bleeding disorder 18 | 1 | Nov 3, 2023 |
| Platelet-type bleeding disorder 20 | 3 | Nov 24, 2023 |
| Poirier-Bienvenu neurodevelopmental syndrome | 1 | Oct 19, 2023 |
| Polycystic kidney disease 2 | 1 | Oct 19, 2023 |
| Polycystic kidney disease 4 | 9 | Dec 7, 2023 |
| Polycystic kidney disease 5 | 2 | Oct 19, 2023 |
| Polycystic kidney disease, adult type | 15 | Nov 24, 2023 |
| Polycystic liver disease 3 with or without kidney cysts | 1 | Feb 2, 2022 |
| Polydactyly, postaxial, type A1 | 1 | Oct 19, 2023 |
| Polyglandular autoimmune syndrome, type 1 | 8 | Feb 18, 2024 |
| Polymicrogyria, bilateral perisylvian, autosomal recessive | 1 | Oct 19, 2023 |
| Pontocerebellar hypoplasia type 10 | 2 | Oct 19, 2023 |
| Pontocerebellar hypoplasia type 2D | 2 | Jan 9, 2023 |
| Pontocerebellar hypoplasia type 6 | 1 | Oct 30, 2023 |
| Pontocerebellar hypoplasia type 9 | 1 | Oct 19, 2023 |
| Porencephaly-microcephaly-bilateral congenital cataract syndrome | 2 | Nov 24, 2023 |
| Porokeratosis 7, multiple types | 1 | Oct 19, 2023 |
| Portal hypertension, noncirrhotic, 2 | 1 | Dec 12, 2023 |
| Posterior column ataxia-retinitis pigmentosa syndrome | 1 | Feb 18, 2024 |
| Potassium-aggravated myotonia | 1 | Feb 2, 2022 |
| Premature ovarian failure 11 | 1 | Oct 19, 2023 |
| Premature ovarian failure 15 | 2 | Nov 24, 2023 |
| Premature ovarian failure 5 | 1 | Nov 24, 2023 |
| Premature ovarian failure 9 | 1 | Oct 27, 2023 |
| Presynaptic congenital myasthenic syndrome | 2 | Feb 2, 2022 |
| Primary CD59 deficiency | 1 | Oct 19, 2023 |
| Primary ciliary dyskinesia 14 | 2 | Oct 19, 2023 |
| Primary ciliary dyskinesia 17 | 1 | Nov 24, 2023 |
| Primary ciliary dyskinesia 28 | 1 | Oct 19, 2023 |
| Primary ciliary dyskinesia 29 | 3 | Dec 12, 2023 |
| Primary ciliary dyskinesia 3 | 6 | Nov 24, 2023 |
| Primary ciliary dyskinesia 5 | 5 | Dec 7, 2023 |
| Primary ciliary dyskinesia 7 | 2 | Oct 19, 2023 |
| Primary coenzyme Q10 deficiency 8 | 2 | Oct 19, 2023 |
| Primary erythromelalgia | 1 | Oct 27, 2023 |
| Primary familial polycythemia due to EPO receptor mutation | 2 | Oct 27, 2023 |
| Primary hyperoxaluria type 3 | 2 | Nov 30, 2023 |
| Primary hyperoxaluria, type I | 7 | Dec 7, 2023 |
| Primary hyperoxaluria, type II | 2 | Dec 7, 2023 |
| Primary hypomagnesemia | 1 | Oct 19, 2023 |
| Primrose syndrome | 1 | Nov 24, 2023 |
| Progressive demyelinating neuropathy with bilateral striatal necrosis | 1 | Oct 19, 2023 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 2 | Oct 19, 2023 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | 2 | Dec 12, 2023 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | 2 | Oct 27, 2023 |
| Progressive familial heart block type IB | 1 | Oct 19, 2023 |
| Progressive familial intrahepatic cholestasis type 1 | 3 | Oct 19, 2023 |
| Progressive familial intrahepatic cholestasis type 2 | 9 | Dec 7, 2023 |
| Progressive familial intrahepatic cholestasis type 3 | 6 | Dec 7, 2023 |
| Progressive myoclonic epilepsy type 3 | 2 | Dec 7, 2023 |
| Progressive myoclonic epilepsy type 7 | 1 | Jan 9, 2023 |
| Progressive pseudorheumatoid dysplasia | 1 | Dec 7, 2023 |
| Progressive sclerosing poliodystrophy | 2 | Dec 7, 2023 |
| Prolidase deficiency | 1 | Dec 9, 2023 |
| Propionic acidemia | 6 | Dec 9, 2023 |
| Prostate cancer, hereditary, 1 | 1 | Feb 18, 2024 |
| Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis | 1 | Dec 7, 2023 |
| Proximal myopathy with extrapyramidal signs | 1 | Oct 19, 2023 |
| Pseudo-Hurler polydystrophy | 1 | Feb 2, 2022 |
| Pseudo-TORCH syndrome 1 | 3 | Dec 12, 2023 |
| Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | 2 | Oct 27, 2023 |
| Pseudohypoparathyroidism type I A | 2 | Dec 12, 2023 |
| Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome | 1 | Jan 9, 2023 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | 1 | Oct 19, 2023 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | 1 | Oct 19, 2023 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | 1 | Nov 24, 2023 |
| Pulmonary hypertension, primary, 3 | 1 | Oct 27, 2023 |
| Pyknodysostosis | 2 | Oct 27, 2023 |
| Pyridoxal phosphate-responsive seizures | 3 | Oct 19, 2023 |
| Pyridoxine-dependent epilepsy | 2 | Dec 9, 2023 |
| Pyropoikilocytosis, hereditary | 2 | Oct 19, 2023 |
| Pyruvate carboxylase deficiency | 1 | Oct 19, 2023 |
| Pyruvate dehydrogenase E1-alpha deficiency | 3 | Nov 23, 2023 |
| Pyruvate kinase deficiency of red cells | 4 | Nov 30, 2023 |
| Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 | 1 | Dec 7, 2023 |
| Recessive dystrophic epidermolysis bullosa | 29 | Oct 27, 2023 |
| Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | 2 | Oct 19, 2023 |
| Renal carnitine transport defect | 3 | Dec 12, 2023 |
| Renal coloboma syndrome | 3 | Oct 27, 2023 |
| Renal cysts and diabetes syndrome | 2 | Feb 2, 2022 |
| Renal hypodysplasia/aplasia 1 | 2 | Oct 27, 2023 |
| Renal hypodysplasia/aplasia 3 | 1 | Oct 19, 2023 |
| Renal hypomagnesemia 5 with ocular involvement | 2 | Oct 27, 2023 |
| Renal tubular acidosis with progressive nerve deafness | 4 | Oct 27, 2023 |
| Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss | 8 | Nov 23, 2023 |
| Renal tubular acidosis, distal, 4, with hemolytic anemia | 4 | Dec 12, 2023 |
| Renal tubular dysgenesis of genetic origin | 4 | Nov 3, 2023 |
| Renal-hepatic-pancreatic dysplasia 1 | 3 | Oct 19, 2023 |
| Renal-hepatic-pancreatic dysplasia 2 | 2 | Nov 23, 2023 |
| Retinitis pigmentosa 11 | 1 | Dec 7, 2023 |
| Retinitis pigmentosa 12 | 1 | Nov 24, 2023 |
| Retinitis pigmentosa 14 | 1 | Feb 2, 2022 |
| Retinitis pigmentosa 20 | 2 | Nov 24, 2023 |
| Retinitis pigmentosa 25 | 2 | Oct 19, 2023 |
| Retinitis pigmentosa 39 | 2 | Oct 19, 2023 |
| Retinitis pigmentosa 41 | 1 | Oct 19, 2023 |
| Retinitis pigmentosa 49 | 1 | Dec 12, 2023 |
| Retinitis pigmentosa-deafness syndrome | 1 | Dec 12, 2023 |
| Retinoblastoma | 1 | Oct 19, 2023 |
| Rett syndrome | 12 | Dec 7, 2023 |
| Rett syndrome, congenital variant | 8 | Dec 7, 2023 |
| Rhabdoid tumor predisposition syndrome 2 | 1 | Oct 19, 2023 |
| Rheumatoid arthritis | 2 | Oct 19, 2023 |
| Ritscher-Schinzel syndrome 2 | 1 | Dec 9, 2023 |
| Roberts-SC phocomelia syndrome | 1 | Oct 19, 2023 |
| Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome | 1 | Oct 19, 2023 |
| Rothmund-Thomson syndrome type 2 | 1 | Nov 24, 2023 |
| Rotor syndrome | 1 | Oct 19, 2023 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 8 | Nov 23, 2023 |
| SRD5A3-congenital disorder of glycosylation | 1 | Jan 9, 2023 |
| Saldino-Mainzer syndrome | 1 | Oct 19, 2023 |
| Sandhoff disease | 5 | Dec 9, 2023 |
| Scapuloperoneal spinal muscular atrophy | 1 | Feb 2, 2022 |
| Schinzel-Giedion syndrome | 2 | Jan 9, 2023 |
| Schwannomatosis 2 | 1 | Nov 24, 2023 |
| Schwartz-Jampel syndrome type 1 | 2 | Oct 19, 2023 |
| Seckel syndrome 4 | 1 | Oct 19, 2023 |
| Seckel syndrome 5 | 1 | Nov 23, 2023 |
| Seizure | 1 | Jan 27, 2023 |
| Seizures, benign familial infantile, 2 | 3 | Oct 19, 2023 |
| Seizures, benign familial infantile, 3 | 1 | Jan 9, 2023 |
| Senior-Loken syndrome 7 | 1 | Jan 9, 2023 |
| Septo-optic dysplasia sequence | 1 | Oct 27, 2023 |
| Severe X-linked myotubular myopathy | 1 | Oct 19, 2023 |
| Severe combined immunodeficiency due to CARD11 deficiency | 1 | Oct 27, 2023 |
| Severe combined immunodeficiency due to CARMIL2 deficiency | 1 | Oct 19, 2023 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 3 | Oct 27, 2023 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | 1 | Oct 19, 2023 |
| Severe early-childhood-onset retinal dystrophy | 4 | Dec 12, 2023 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 1 | Jan 9, 2023 |
| Severe myoclonic epilepsy in infancy | 22 | Dec 7, 2023 |
| Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | 1 | Feb 2, 2022 |
| Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 | 1 | Nov 24, 2023 |
| Short stature-brachydactyly-obesity-global developmental delay syndrome | 1 | Jan 9, 2023 |
| Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | 2 | Oct 19, 2023 |
| Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome | 3 | Nov 23, 2023 |
| Short-limb skeletal dysplasia with severe combined immunodeficiency | 1 | Feb 2, 2022 |
| Short-rib thoracic dysplasia 10 with or without polydactyly | 2 | Nov 3, 2023 |
| Short-rib thoracic dysplasia 14 with polydactyly | 1 | Oct 19, 2023 |
| Short-rib thoracic dysplasia 6 with or without polydactyly | 3 | Oct 19, 2023 |
| Shukla-Vernon syndrome | 2 | Oct 19, 2023 |
| Shwachman-Diamond syndrome 1 | 3 | Dec 12, 2023 |
| Sinoatrial node dysfunction and deafness | 1 | Oct 19, 2023 |
| Sitosterolemia 1 | 2 | Oct 27, 2023 |
| Sitosterolemia 2 | 1 | Feb 2, 2022 |
| Sjögren-Larsson syndrome | 1 | Jan 9, 2023 |
| Skin/hair/eye pigmentation, variation in, 2 | 1 | Oct 19, 2023 |
| Sneddon syndrome | 1 | Nov 24, 2023 |
| Sotos syndrome | 8 | Dec 7, 2023 |
| Spastic ataxia 2 | 1 | Oct 19, 2023 |
| Spastic ataxia 5 | 2 | Oct 27, 2023 |
| Spastic paraplegia, intellectual disability, nystagmus, and obesity | 2 | Dec 7, 2023 |
| Spastic paraplegia-severe developmental delay-epilepsy syndrome | 1 | Jan 9, 2023 |
| Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | 2 | Oct 19, 2023 |
| Specific granule deficiency 2 | 1 | Oct 19, 2023 |
| Spermatogenic failure 20 | 1 | Feb 2, 2022 |
| Spermatogenic failure 25 | 1 | Feb 2, 2022 |
| Spermatogenic failure 34 | 1 | Feb 2, 2022 |
| Spinal muscular atrophy with congenital bone fractures 1 | 1 | Nov 3, 2023 |
| Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | 2 | Oct 27, 2023 |
| Spinocerebellar ataxia 27A | 1 | Nov 3, 2023 |
| Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | 2 | Nov 23, 2023 |
| Spinocerebellar ataxia type 11 | 1 | Oct 19, 2023 |
| Spinocerebellar ataxia type 13 | 1 | Dec 7, 2023 |
| Spinocerebellar ataxia type 19/22 | 1 | Oct 27, 2023 |
| Spinocerebellar ataxia type 26 | 1 | Oct 27, 2023 |
| Spinocerebellar ataxia type 29 | 1 | Oct 19, 2023 |
| Spinocerebellar ataxia type 35 | 1 | Feb 2, 2022 |
| Spinocerebellar ataxia type 40 | 2 | Oct 19, 2023 |
| Spinocerebellar ataxia type 42 | 1 | Oct 19, 2023 |
| Spinocerebellar ataxia type 5 | 1 | Oct 19, 2023 |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 3 | Oct 19, 2023 |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | 1 | Oct 19, 2023 |
| Sponastrime dysplasia | 2 | Feb 2, 2022 |
| Spondylocarpotarsal synostosis syndrome | 1 | Oct 19, 2023 |
| Spondylocostal dysostosis 5 | 1 | Nov 24, 2023 |
| Spondyloenchondrodysplasia with immune dysregulation | 3 | Oct 19, 2023 |
| Spondyloepimetaphyseal dysplasia with multiple dislocations | 1 | Feb 2, 2022 |
| Spondyloepimetaphyseal dysplasia, Missouri type | 1 | Oct 19, 2023 |
| Spondyloepimetaphyseal dysplasia, aggrecan type | 2 | Oct 19, 2023 |
| Spondyloepimetaphyseal dysplasia, matrilin-3 type | 1 | Oct 27, 2023 |
| Spondyloepiphyseal dysplasia congenita | 1 | Oct 19, 2023 |
| Spondyloepiphyseal dysplasia with congenital joint dislocations | 1 | Oct 19, 2023 |
| Spondyloepiphyseal dysplasia, Stanescu type | 1 | Oct 19, 2023 |
| Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis | 1 | Oct 19, 2023 |
| Spondylometaphyseal dysplasia, Kozlowski type | 1 | Oct 27, 2023 |
| Spongy degeneration of central nervous system | 2 | Jan 9, 2023 |
| Stankiewicz-Isidor syndrome | 1 | Oct 19, 2023 |
| Steel syndrome | 1 | Feb 2, 2022 |
| Stickler syndrome type 1 | 2 | Nov 3, 2023 |
| Stickler syndrome type 2 | 1 | Oct 19, 2023 |
| Stickler syndrome, type 4 | 2 | Dec 12, 2023 |
| Stickler syndrome, type I, nonsyndromic ocular | 1 | Oct 19, 2023 |
| Striatal degeneration, autosomal dominant 2 | 1 | Feb 2, 2022 |
| Striatonigral degeneration, childhood-onset | 2 | Dec 12, 2023 |
| Stromme syndrome | 3 | Dec 12, 2023 |
| Structural heart defects and renal anomalies syndrome | 1 | Dec 12, 2023 |
| Succinate-semialdehyde dehydrogenase deficiency | 4 | Oct 27, 2023 |
| Succinyl-CoA acetoacetate transferase deficiency | 1 | Oct 19, 2023 |
| Sucrase-isomaltase deficiency | 2 | Dec 9, 2023 |
| Sudden cardiac failure, infantile | 1 | Dec 7, 2023 |
| Sudden infant death-dysgenesis of the testes syndrome | 1 | Feb 2, 2022 |
| Sulfite oxidase deficiency | 2 | Dec 9, 2023 |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | 4 | Nov 3, 2023 |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C | 1 | Feb 2, 2022 |
| Surfactant metabolism dysfunction, pulmonary, 1 | 1 | Oct 30, 2023 |
| Surfactant metabolism dysfunction, pulmonary, 2 | 1 | Oct 19, 2023 |
| Surfactant metabolism dysfunction, pulmonary, 4 | 1 | Oct 19, 2023 |
| Syndromic X-linked intellectual disability 94 | 1 | Oct 19, 2023 |
| Syndromic X-linked intellectual disability Hedera type | 1 | Nov 24, 2023 |
| Syndromic X-linked intellectual disability Najm type | 2 | Nov 23, 2023 |
| Syndromic X-linked intellectual disability Raymond type | 1 | Oct 19, 2023 |
| Synpolydactyly type 2 | 1 | Oct 19, 2023 |
| T-substance anomaly | 1 | Nov 24, 2023 |
| TELO2-related intellectual disability-neurodevelopmental disorder | 1 | Oct 19, 2023 |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | 2 | Dec 12, 2023 |
| Tay-Sachs disease | 7 | Oct 27, 2023 |
| Telangiectasia, hereditary hemorrhagic, type 1 | 1 | Dec 7, 2023 |
| Temple-Baraitser syndrome | 1 | Feb 2, 2022 |
| Temtamy syndrome | 2 | Oct 27, 2023 |
| Thanatophoric dysplasia, type 2 | 1 | Oct 27, 2023 |
| Thrombocythemia 1 | 1 | Dec 7, 2023 |
| Thrombocythemia 2 | 1 | Oct 19, 2023 |
| Thrombocythemia 3 | 4 | Nov 24, 2023 |
| Thrombocytopenia 2 | 1 | Oct 19, 2023 |
| Thrombocytopenia 6 | 1 | Oct 19, 2023 |
| Thrombophilia due to activated protein C resistance | 1 | Nov 23, 2023 |
| Thrombophilia due to protein C deficiency, autosomal dominant | 2 | Nov 24, 2023 |
| Thrombophilia due to thrombin defect | 1 | Oct 19, 2023 |
| Thyroid dyshormonogenesis 6 | 8 | Mar 15, 2024 |
| Thyroid hormone resistance, generalized, autosomal dominant | 1 | Feb 2, 2022 |
| Thyrotoxic periodic paralysis, susceptibility to, 1 | 1 | Oct 19, 2023 |
| Tibial muscular dystrophy | 1 | Oct 19, 2023 |
| Timothy syndrome | 1 | Jan 9, 2023 |
| Townes-Brocks syndrome 1 | 2 | Nov 24, 2023 |
| Transient infantile hypertriglyceridemia and hepatosteatosis | 2 | Dec 9, 2023 |
| Treacher Collins syndrome 1 | 1 | Nov 24, 2023 |
| Tremor, hereditary essential, 4 | 1 | Oct 19, 2023 |
| Tremor, hereditary essential, 5 | 3 | Dec 7, 2023 |
| Trichohepatoenteric syndrome 1 | 1 | Nov 24, 2023 |
| Trichohepatoneurodevelopmental syndrome | 1 | Oct 19, 2023 |
| Troyer syndrome | 1 | Jan 9, 2023 |
| Tuberous sclerosis 1 | 3 | Oct 19, 2023 |
| Tuberous sclerosis 2 | 8 | Oct 27, 2023 |
| Tumoral calcinosis, hyperphosphatemic, familial, 1 | 1 | Nov 24, 2023 |
| Type 2 diabetes mellitus | 1 | Oct 19, 2023 |
| Tyrosinase-negative oculocutaneous albinism | 5 | Oct 19, 2023 |
| Tyrosinase-positive oculocutaneous albinism | 5 | Dec 7, 2023 |
| Tyrosinemia type I | 6 | Dec 7, 2023 |
| Ullrich congenital muscular dystrophy 1A | 11 | Dec 7, 2023 |
| Ullrich congenital muscular dystrophy 2 | 1 | Nov 24, 2023 |
| Ulnar-mammary syndrome | 1 | Oct 27, 2023 |
| Unverricht-Lundborg syndrome | 1 | Nov 24, 2023 |
| Upshaw-Schulman syndrome | 2 | Mar 15, 2024 |
| Usher syndrome type 1 | 1 | Dec 12, 2023 |
| Usher syndrome type 2A | 5 | Dec 9, 2023 |
| Usher syndrome type 2C | 3 | Oct 19, 2023 |
| Van Maldergem syndrome 1 | 3 | Oct 19, 2023 |
| Van Maldergem syndrome 2 | 1 | Oct 19, 2023 |
| Vanishing white matter disease | 2 | Jan 9, 2023 |
| Vasculitis due to ADA2 deficiency | 3 | Oct 19, 2023 |
| Ventriculomegaly-cystic kidney disease | 1 | Feb 2, 2022 |
| Vertebral, cardiac, tracheoesophageal, renal, and limb defects | 1 | Oct 19, 2023 |
| Very long chain acyl-CoA dehydrogenase deficiency | 1 | Dec 12, 2023 |
| Vici syndrome | 2 | Oct 19, 2023 |
| Vitamin D hydroxylation-deficient rickets, type 1B | 1 | Dec 7, 2023 |
| Vitamin D-dependent rickets type II with alopecia | 2 | Oct 19, 2023 |
| Vitamin D-dependent rickets, type 1A | 2 | Oct 30, 2023 |
| Waardenburg syndrome type 1 | 2 | Nov 24, 2023 |
| Waardenburg syndrome type 2E | 1 | Jan 9, 2023 |
| Waardenburg syndrome type 4A | 1 | Oct 19, 2023 |
| Waardenburg syndrome type 4C | 2 | Oct 19, 2023 |
| Warburg micro syndrome 1 | 2 | Oct 27, 2023 |
| Warburg micro syndrome 2 | 1 | Oct 19, 2023 |
| Warsaw breakage syndrome | 2 | Feb 2, 2022 |
| Weill-Marchesani syndrome 1 | 1 | Nov 24, 2023 |
| Weiss-kruszka syndrome | 2 | Dec 9, 2023 |
| Wieacker-Wolff syndrome, female-restricted | 3 | Dec 7, 2023 |
| Wiedemann-Steiner syndrome | 1 | Nov 24, 2023 |
| Wilson disease | 26 | Dec 12, 2023 |
| Wiskott-Aldrich syndrome | 3 | Oct 19, 2023 |
| Wolfram syndrome 1 | 3 | Dec 9, 2023 |
| X-linked Alport syndrome | 8 | Dec 7, 2023 |
| X-linked agammaglobulinemia | 1 | Oct 19, 2023 |
| X-linked central congenital hypothyroidism with late-onset testicular enlargement | 1 | Oct 19, 2023 |
| X-linked complicated corpus callosum dysgenesis | 1 | Oct 19, 2023 |
| X-linked congenital hemolytic anemia | 1 | Oct 19, 2023 |
| X-linked dyserythropoetic anemia with abnormal platelets and neutropenia | 1 | Dec 7, 2023 |
| X-linked erythropoietic protoporphyria | 1 | Dec 7, 2023 |
| X-linked intellectual disability Cabezas type | 1 | Oct 19, 2023 |
| X-linked intellectual disability with marfanoid habitus | 1 | Jan 9, 2023 |
| X-linked intellectual disability, Cantagrel type | 4 | Oct 27, 2023 |
| X-linked intellectual disability-cerebellar hypoplasia syndrome | 2 | Oct 19, 2023 |
| X-linked intellectual disability-psychosis-macroorchidism syndrome | 2 | Oct 19, 2023 |
| X-linked myopathy with excessive autophagy | 1 | Oct 19, 2023 |
| X-linked reticulate pigmentary disorder | 1 | Nov 24, 2023 |
| X-linked severe combined immunodeficiency | 1 | Feb 2, 2022 |
| Xeroderma pigmentosum, group C | 1 | Oct 19, 2023 |
| Xeroderma pigmentosum, group E | 1 | Oct 19, 2023 |
| Xeroderma pigmentosum, group G | 1 | Nov 3, 2023 |
| Yunis-Varon syndrome | 1 | Oct 19, 2023 |
| ZTTK syndrome | 3 | Dec 12, 2023 |
| Zaki syndrome | 1 | Oct 19, 2023 |
| Zimmermann-Laband syndrome 1 | 2 | Jan 9, 2023 |
| beta Thalassemia | 3 | Feb 2, 2022 |
| von Willebrand disease type 1 | 1 | Oct 19, 2023 |
| von Willebrand disease type 2 | 2 | Oct 19, 2023 |
| von Willebrand disease type 3 | 1 | Oct 19, 2023 |
