| 16p11.2p12.2 microduplication syndrome | 1 | Dec 28, 2021 |
| 16p13.11 microdeletion syndrome | 2 | Sep 22, 2023 |
| 16p13.11 microduplication syndrome | 1 | Sep 22, 2023 |
| 17p11.2 microduplication syndrome | 1 | Dec 28, 2021 |
| 2-3 finger cutaneous syndactyly | 1 | Nov 23, 2021 |
| 2-hydroxyglutaric aciduria | 2 | Sep 23, 2021 |
| 2q13 microdeletion syndrome | 1 | Sep 22, 2023 |
| 3-hydroxyisobutyryl-CoA hydrolase deficiency | 2 | Oct 12, 2020 |
| 3-methylcrotonyl-CoA carboxylase 2 deficiency | 3 | Sep 29, 2022 |
| 3MC syndrome 1 | 1 | Sep 23, 2021 |
| 46,XX ovarian dysgenesis-short stature syndrome | 1 | Nov 1, 2023 |
| 46,XY sex reversal 3 | 1 | Jan 31, 2022 |
| 46,XY sex reversal 6 | 1 | Oct 12, 2020 |
| 4p partial monosomy syndrome | 1 | Sep 23, 2021 |
| 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 3 | Jun 4, 2025 |
| 8p23.1 duplication syndrome | 1 | Sep 22, 2023 |
| 8q24.3 microdeletion syndrome | 5 | Mar 4, 2025 |
| ACCES syndrome | 1 | Mar 1, 2024 |
| ACTB-associated syndromic thrombocytopenia | 1 | Oct 10, 2025 |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 11 | Mar 6, 2026 |
| ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY | 3 | Jun 4, 2025 |
| ADan amyloidosis | 1 | Apr 20, 2020 |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 2 | Oct 2, 2024 |
| ALG1-congenital disorder of glycosylation | 1 | Oct 12, 2020 |
| ALG6-congenital disorder of glycosylation 1C | 3 | Mar 6, 2026 |
| ALG8 congenital disorder of glycosylation | 1 | Oct 2, 2024 |
| ANK2-associated Neurodevelopmental Disorder | 3 | Apr 5, 2024 |
| ANK2-associated seizure disorder | 1 | Jan 6, 2026 |
| AP5B1-associated macular dystrophy | 2 | Oct 10, 2025 |
| ASCC3-associated disorder | 1 | Feb 2, 2024 |
| Aarskog syndrome | 3 | Dec 19, 2022 |
| Abdominal obesity-metabolic syndrome 3 | 1 | Sep 23, 2021 |
| Abdominal obesity-metabolic syndrome 4 | 1 | Dec 12, 2024 |
| Abetalipoproteinaemia | 2 | Dec 5, 2025 |
| Abnormal facial shape | 1 | Dec 28, 2021 |
| Abnormal finger morphology | 1 | Oct 12, 2020 |
| Abnormal foot morphology | 1 | Dec 28, 2021 |
| Abnormal growth hormone level | 1 | Jan 31, 2022 |
| Abnormality of the dentition | 1 | Apr 14, 2023 |
| Abnormality of the face | 3 | Dec 28, 2021 |
| Achondrogenesis, type IB | 1 | Apr 20, 2020 |
| Achondroplasia | 2 | Mar 6, 2026 |
| Achromatopsia 2 | 2 | Mar 4, 2025 |
| Achromatopsia 3 | 1 | Apr 20, 2020 |
| Acne inversa, familial, 1 | 1 | Feb 7, 2023 |
| Acral peeling skin syndrome | 2 | Mar 6, 2026 |
| Acrocallosal syndrome | 1 | Oct 12, 2020 |
| Acrocephalosyndactyly type I | 3 | Nov 14, 2025 |
| Acrodysostosis 2 with or without hormone resistance | 1 | Oct 12, 2020 |
| Acrofacial dysostosis Cincinnati type | 2 | Oct 12, 2020 |
| Acromicric dysplasia | 1 | Oct 12, 2020 |
| Actin accumulation myopathy | 1 | Apr 20, 2020 |
| Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 2 | Oct 2, 2024 |
| Acute intermittent porphyria | 2 | Dec 5, 2025 |
| Acute myeloid leukemia | 5 | Jan 6, 2026 |
| Acyl-CoA oxidase deficiency | 1 | Oct 12, 2020 |
| Adams-Oliver syndrome 2 | 1 | Oct 12, 2020 |
| Adams-Oliver syndrome 5 | 1 | Oct 10, 2025 |
| Adams-Oliver syndrome 6 | 1 | Aug 8, 2025 |
| Adenocarcinoma | 1 | Sep 23, 2021 |
| Adenylosuccinate lyase deficiency | 2 | Nov 1, 2023 |
| Adrenoleukodystrophy | 28 | Mar 6, 2026 |
| Adult hypophosphatasia | 8 | Jan 6, 2026 |
| Adult polyglucosan body disease | 3 | Jul 8, 2025 |
| Adult-onset foveomacular vitelliform dystrophy | 2 | Apr 20, 2020 |
| Agammaglobulinemia 4, autosomal recessive | 1 | Apr 20, 2020 |
| Agammaglobulinemia 8, autosomal dominant | 3 | Apr 8, 2025 |
| Age related macular degeneration 2 | 3 | Jun 4, 2025 |
| Aicardi-Goutieres syndrome 1 | 2 | Mar 1, 2024 |
| Aicardi-Goutieres syndrome 2 | 1 | Mar 1, 2024 |
| Aicardi-Goutieres syndrome 6 | 3 | Mar 6, 2026 |
| Aicardi-Goutieres syndrome 7 | 3 | Oct 12, 2020 |
| Alagille syndrome due to a JAG1 point mutation | 3 | Mar 1, 2024 |
| Alagille syndrome due to a NOTCH2 point mutation | 1 | Oct 2, 2024 |
| Aland island eye disease | 1 | Apr 20, 2020 |
| Aldosterone-producing adenoma with seizures and neurological abnormalities | 1 | Mar 6, 2026 |
| Alexander disease | 2 | Oct 2, 2024 |
| Allan-Herndon-Dudley syndrome | 2 | Jun 4, 2025 |
| Alpha thalassemia-X-linked intellectual disability syndrome | 10 | Apr 29, 2022 |
| Alpha-1-antitrypsin deficiency | 2 | Sep 16, 2025 |
| Alstrom syndrome | 9 | Apr 5, 2024 |
| Alternating hemiplegia of childhood 1 | 5 | Apr 8, 2025 |
| Alternating hemiplegia of childhood 2 | 3 | Dec 12, 2024 |
| Alzheimer disease 3 | 1 | Apr 20, 2020 |
| Alzheimer disease 4 | 1 | Sep 16, 2025 |
| Alzheimer disease type 1 | 1 | Aug 16, 2023 |
| Amelocerebrohypohidrotic syndrome | 4 | Nov 14, 2025 |
| Amyloidosis, hereditary systemic 1 | 2 | Aug 8, 2025 |
| Amyotrophic lateral sclerosis type 1 | 2 | Oct 2, 2024 |
| Amyotrophic lateral sclerosis type 10 | 1 | Nov 14, 2025 |
| Amyotrophic lateral sclerosis type 2, juvenile | 2 | Oct 2, 2024 |
| Amyotrophic lateral sclerosis type 21 | 1 | Apr 20, 2020 |
| Amyotrophic lateral sclerosis type 23 | 1 | Oct 2, 2024 |
| Amyotrophic lateral sclerosis type 4 | 1 | Jul 8, 2025 |
| Amyotrophic neuralgia | 1 | Oct 2, 2024 |
| Androgen resistance syndrome | 2 | Aug 16, 2023 |
| Anemia | 1 | Jan 31, 2022 |
| Anemia, congenital dyserythropoietic, type 1a | 2 | Sep 29, 2022 |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 3 | Dec 12, 2024 |
| Aneurysm-osteoarthritis syndrome | 7 | Aug 8, 2025 |
| Angelman syndrome | 5 | Jun 4, 2025 |
| Aniridia 1 | 3 | Oct 2, 2024 |
| Anophthalmia/microphthalmia-esophageal atresia syndrome | 4 | Dec 5, 2025 |
| Aortic aneurysm | 1 | Sep 29, 2021 |
| Aortic aneurysm, familial thoracic 10 | 2 | Jul 8, 2025 |
| Aortic aneurysm, familial thoracic 4 | 10 | Feb 2, 2024 |
| Aortic aneurysm, familial thoracic 6 | 1 | Dec 12, 2024 |
| Aortic aneurysm, familial thoracic 7 | 2 | Mar 4, 2025 |
| Aortic valve disease 1 | 1 | Apr 20, 2020 |
| Aortic valve disease 2 | 2 | Dec 28, 2021 |
| Aortic valve disease 3 | 2 | Mar 1, 2024 |
| Aplasia/Hypoplasia of the inner ear | 1 | Dec 28, 2021 |
| Argininosuccinate lyase deficiency | 3 | Oct 2, 2024 |
| Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 1 | Feb 2, 2024 |
| Arrhythmogenic right ventricular dysplasia 1 | 1 | Oct 12, 2020 |
| Arrhythmogenic right ventricular dysplasia 10 | 6 | Jan 6, 2026 |
| Arrhythmogenic right ventricular dysplasia 11 | 2 | Jan 31, 2022 |
| Arrhythmogenic right ventricular dysplasia 2 | 6 | Oct 12, 2020 |
| Arrhythmogenic right ventricular dysplasia 8 | 11 | Apr 8, 2025 |
| Arrhythmogenic right ventricular dysplasia 9 | 9 | Mar 6, 2026 |
| Arthrogryposis multiplex congenita 3, myogenic type | 4 | Oct 12, 2020 |
| Arthrogryposis multiplex congenita 5 | 1 | Dec 19, 2022 |
| Arthrogryposis, distal, type 1A | 1 | Feb 2, 2024 |
| Arthrogryposis, distal, type 2B2 | 1 | Oct 12, 2020 |
| Arthrogryposis, distal, type 2B3 | 1 | Oct 12, 2020 |
| Aspartylglucosaminuria | 1 | Apr 20, 2020 |
| Asphyxiating thoracic dystrophy 3 | 3 | Sep 16, 2025 |
| Astigmatism | 2 | Dec 28, 2021 |
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 4 | Apr 5, 2024 |
| Ataxia, intention tremor, and hypotonia syndrome, childhood-onset | 1 | Oct 2, 2024 |
| Ataxia-pancytopenia syndrome | 2 | Oct 2, 2024 |
| Ataxia-telangiectasia syndrome | 2 | Oct 12, 2020 |
| Ateleiotic dwarfism | 3 | Oct 12, 2020 |
| Atelosteogenesis type I | 1 | Apr 20, 2020 |
| Atonic seizure | 1 | Dec 28, 2021 |
| Atrophia bulborum hereditaria | 1 | Jan 31, 2022 |
| Attention deficit hyperactivity disorder | 1 | Dec 28, 2021 |
| Atypical behavior | 2 | Feb 7, 2023 |
| Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly | 1 | Mar 6, 2026 |
| Auriculocondylar syndrome 2 | 2 | Sep 4, 2023 |
| Autism | 6 | Apr 14, 2023 |
| Autism spectrum disorder | 1 | Sep 29, 2021 |
| Autism spectrum disorder due to AUTS2 deficiency | 10 | Mar 6, 2026 |
| Autism, susceptibility to, 17 | 1 | Feb 2, 2024 |
| Autism, susceptibility to, X-linked 1 | 1 | Oct 2, 2024 |
| Autism, susceptibility to, X-linked 2 | 1 | Apr 20, 2020 |
| Autism, susceptibility to, X-linked 4 | 2 | Nov 1, 2023 |
| Autistic behavior | 1 | Dec 28, 2021 |
| Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | 1 | Apr 20, 2020 |
| Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | 1 | Sep 16, 2025 |
| Autoimmune lymphoproliferative syndrome type 1 | 2 | Jan 10, 2025 |
| Autoinflammation with arthritis and dyskeratosis | 1 | Aug 16, 2023 |
| Autoinflammation, immune dysregulation, and eosinophilia | 1 | Aug 16, 2023 |
| Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | 1 | Sep 23, 2021 |
| Autoinflammatory syndrome with immunodeficiency | 1 | Oct 2, 2024 |
| Autoinflammatory syndrome, familial, Behcet-like 1 | 1 | Mar 4, 2025 |
| Autosomal dominant Alport syndrome | 11 | Aug 8, 2025 |
| Autosomal dominant Opitz G/BBB syndrome | 1 | Oct 12, 2020 |
| Autosomal dominant Parkinson disease 8 | 2 | Mar 6, 2026 |
| Autosomal dominant cerebellar ataxia, deafness and narcolepsy | 1 | Apr 20, 2020 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | 3 | Mar 4, 2025 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 1 | Feb 25, 2020 |
| Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | 4 | Apr 5, 2024 |
| Autosomal dominant hypocalcemia 1 | 1 | Apr 20, 2020 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 4 | Sep 23, 2021 |
| Autosomal dominant isolated somatotropin deficiency | 1 | Apr 29, 2022 |
| Autosomal dominant limb-girdle muscular dystrophy type 1F | 1 | Jul 22, 2022 |
| Autosomal dominant limb-girdle muscular dystrophy type 1G | 1 | Nov 14, 2025 |
| Autosomal dominant nocturnal frontal lobe epilepsy 1 | 5 | Jan 6, 2026 |
| Autosomal dominant nocturnal frontal lobe epilepsy 3 | 4 | Sep 29, 2022 |
| Autosomal dominant nocturnal frontal lobe epilepsy 4 | 2 | Jun 4, 2025 |
| Autosomal dominant nocturnal frontal lobe epilepsy 5 | 6 | Aug 16, 2023 |
| Autosomal dominant nonsyndromic hearing loss 10 | 1 | Oct 12, 2020 |
| Autosomal dominant nonsyndromic hearing loss 11 | 4 | Oct 12, 2020 |
| Autosomal dominant nonsyndromic hearing loss 12 | 1 | Oct 12, 2020 |
| Autosomal dominant nonsyndromic hearing loss 13 | 3 | Oct 12, 2020 |
| Autosomal dominant nonsyndromic hearing loss 20 | 2 | Oct 2, 2024 |
| Autosomal dominant nonsyndromic hearing loss 22 | 1 | Sep 29, 2022 |
| Autosomal dominant nonsyndromic hearing loss 23 | 1 | Apr 5, 2024 |
| Autosomal dominant nonsyndromic hearing loss 2A | 1 | Mar 4, 2025 |
| Autosomal dominant nonsyndromic hearing loss 3A | 1 | Aug 16, 2023 |
| Autosomal dominant nonsyndromic hearing loss 56 | 1 | Apr 20, 2020 |
| Autosomal dominant nonsyndromic hearing loss 6 | 1 | Sep 4, 2023 |
| Autosomal dominant nonsyndromic hearing loss 9 | 1 | Feb 7, 2023 |
| Autosomal dominant optic atrophy classic form | 12 | Mar 6, 2026 |
| Autosomal dominant osteopetrosis 2 | 1 | Jun 4, 2025 |
| Autosomal dominant striatal neurodegeneration type 1 | 2 | Oct 28, 2022 |
| Autosomal dominant vitreoretinochoroidopathy | 2 | Jan 6, 2026 |
| Autosomal recessive Alport syndrome | 6 | Mar 6, 2026 |
| Autosomal recessive Kenny-Caffey syndrome | 1 | Oct 2, 2024 |
| Autosomal recessive ataxia due to ubiquinone deficiency | 1 | Apr 20, 2020 |
| Autosomal recessive ataxia, Beauce type | 2 | Mar 1, 2024 |
| Autosomal recessive axonal neuropathy with neuromyotonia | 2 | Oct 2, 2024 |
| Autosomal recessive bestrophinopathy | 1 | Oct 2, 2024 |
| Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | 1 | Sep 23, 2021 |
| Autosomal recessive complex spastic paraplegia type 9B | 1 | Apr 5, 2024 |
| Autosomal recessive congenital ichthyosis 2 | 3 | Sep 23, 2021 |
| Autosomal recessive congenital ichthyosis 3 | 1 | Oct 12, 2020 |
| Autosomal recessive congenital ichthyosis 4A | 1 | Dec 8, 2023 |
| Autosomal recessive early-onset Parkinson disease 23 | 1 | Oct 12, 2020 |
| Autosomal recessive hypophosphatemic bone disease | 2 | Jan 10, 2025 |
| Autosomal recessive inheritance | 4 | Nov 23, 2021 |
| Autosomal recessive inherited pseudoxanthoma elasticum | 11 | Jun 4, 2025 |
| Autosomal recessive juvenile Parkinson disease 2 | 4 | Nov 14, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 3 | Dec 12, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 1 | Apr 20, 2020 |
| Autosomal recessive limb-girdle muscular dystrophy type 2D | 4 | Jun 4, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2E | 1 | Oct 2, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2I | 1 | Oct 2, 2024 |
| Autosomal recessive nonsyndromic hearing loss 12 | 1 | Sep 23, 2021 |
| Autosomal recessive nonsyndromic hearing loss 18B | 1 | Sep 29, 2022 |
| Autosomal recessive nonsyndromic hearing loss 1A | 5 | Mar 6, 2026 |
| Autosomal recessive nonsyndromic hearing loss 3 | 7 | Mar 6, 2026 |
| Autosomal recessive nonsyndromic hearing loss 36 | 1 | Oct 8, 2020 |
| Autosomal recessive nonsyndromic hearing loss 77 | 2 | Oct 2, 2024 |
| Autosomal recessive nonsyndromic hearing loss 8 | 5 | Dec 5, 2025 |
| Autosomal recessive osteopetrosis 1 | 1 | Apr 20, 2020 |
| Autosomal recessive osteopetrosis 4 | 2 | Aug 8, 2025 |
| Autosomal recessive proximal renal tubular acidosis | 2 | Aug 16, 2023 |
| Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | 1 | Apr 20, 2020 |
| Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency | 1 | Oct 2, 2024 |
| Autosomal recessive spastic paraplegia type 78 | 1 | Oct 12, 2020 |
| Autosomal recessive spinocerebellar ataxia 10 | 1 | Oct 12, 2020 |
| Autosomal recessive spinocerebellar ataxia 14 | 1 | Sep 23, 2021 |
| Autosomal recessive spinocerebellar ataxia 18 | 5 | May 10, 2023 |
| Avellino corneal dystrophy | 1 | Mar 1, 2024 |
| Axial hypotonia | 1 | Jan 31, 2022 |
| Ayme-Gripp syndrome | 2 | Nov 14, 2025 |
| BAP1-related tumor predisposition syndrome | 5 | Aug 16, 2023 |
| BAZ2B-associated neurodevelopmental disorder | 1 | Oct 2, 2024 |
| BENTA disease | 2 | Oct 12, 2020 |
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 | 9 | Jan 10, 2025 |
| BRSK1-associated neurodevelopmental disorder | 1 | Mar 6, 2026 |
| BRSK2-associated neurodevelopmental disorder | 1 | Dec 5, 2025 |
| BSN-associated epilepsy | 1 | Aug 8, 2025 |
| BSN-associated neurodevelopmental disorder | 1 | Jan 6, 2026 |
| BSN-associated seizure disorder | 2 | Sep 16, 2025 |
| Band heterotopia of brain | 1 | Oct 2, 2024 |
| Baraitser-Winter syndrome 1 | 4 | Mar 4, 2025 |
| Baraitser-winter syndrome 2 | 1 | Oct 4, 2021 |
| Bardet-Biedl syndrome 1 | 1 | Jan 31, 2022 |
| Bardet-Biedl syndrome 7 | 1 | Oct 12, 2020 |
| Bardet-Biedl syndrome 9 | 2 | Oct 12, 2020 |
| Barrett esophagus | 1 | Sep 23, 2021 |
| Bartsocas-Papas syndrome 1 | 1 | Sep 23, 2021 |
| Bartter disease type 1 | 1 | Apr 20, 2020 |
| Bartter disease type 5 | 1 | Jan 10, 2025 |
| Basal cell carcinoma, susceptibility to, 1 | 3 | Apr 5, 2024 |
| Basal cell nevus syndrome 1 | 4 | Jun 4, 2025 |
| Basal ganglia calcification, idiopathic, 5 | 1 | Apr 20, 2020 |
| Basal ganglia calcification, idiopathic, 6 | 2 | Sep 16, 2025 |
| Basilicata-Akhtar syndrome | 3 | Feb 7, 2023 |
| Beck-Fahrner syndrome | 5 | Mar 1, 2024 |
| Becker muscular dystrophy | 4 | Nov 14, 2025 |
| Benign concentric annular macular dystrophy | 1 | Dec 28, 2021 |
| Benign familial hematuria | 1 | Mar 2, 2022 |
| Benign familial neonatal-infantile seizures 1 | 1 | Nov 14, 2025 |
| Benign hereditary chorea | 1 | Oct 12, 2020 |
| Benign paroxysmal tonic upgaze of childhood with ataxia | 1 | Oct 2, 2024 |
| Beta-thalassemia HBB/LCRB | 3 | Mar 6, 2026 |
| Bethlem myopathy 1A | 5 | Dec 8, 2023 |
| Bethlem myopathy 1C | 1 | Oct 2, 2024 |
| Bethlem myopathy 2 | 2 | Oct 12, 2020 |
| Bietti crystalline corneoretinal dystrophy | 2 | Jul 22, 2022 |
| Bifid uvula | 1 | Apr 14, 2023 |
| Bifunctional peroxisomal enzyme deficiency | 3 | Aug 16, 2023 |
| Bilateral frontoparietal polymicrogyria | 4 | Oct 8, 2020 |
| Bilateral renal agenesis | 2 | Feb 5, 2021 |
| Biotin-responsive basal ganglia disease | 1 | Feb 2, 2024 |
| Biotinidase deficiency | 6 | Oct 10, 2025 |
| Birk-Barel syndrome | 2 | Oct 12, 2020 |
| Birt-Hogg-Dube syndrome | 3 | Jul 22, 2022 |
| Birt-Hogg-Dube syndrome 1 | 3 | Jun 4, 2025 |
| Blau syndrome | 1 | Apr 20, 2020 |
| Blepharophimosis - intellectual disability syndrome, MKB type | 2 | Mar 6, 2026 |
| Blepharophimosis - intellectual disability syndrome, SBBYS type | 4 | Apr 5, 2024 |
| Blepharophimosis, ptosis, and epicanthus inversus syndrome | 1 | Aug 16, 2023 |
| Blepharophimosis-impaired intellectual development syndrome | 1 | Mar 6, 2026 |
| Bloom syndrome | 5 | Dec 12, 2024 |
| Bohring-Opitz syndrome | 4 | Sep 23, 2021 |
| Borderline intellectual disability | 1 | Dec 28, 2021 |
| Borjeson-Forssman-Lehmann syndrome | 2 | Oct 12, 2020 |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | 5 | Mar 6, 2026 |
| Brachycephaly | 3 | Dec 28, 2021 |
| Brachycephaly, trichomegaly, and developmental delay | 1 | Sep 4, 2023 |
| Brachydactyly type A1 | 1 | Oct 2, 2024 |
| Brachydactyly type C | 1 | Oct 2, 2024 |
| Brachydactyly-syndactyly syndrome | 1 | Apr 20, 2020 |
| Brain abnormalities, neurodegeneration, and dysosteosclerosis | 1 | Jul 22, 2021 |
| Brain malformations with or without urinary tract defects | 2 | Apr 5, 2024 |
| Brain small vessel disease 1 with or without ocular anomalies | 13 | Jan 6, 2026 |
| Brain small vessel disease 2A, autosomal dominant | 8 | Sep 16, 2025 |
| Brain-lung-thyroid syndrome | 1 | Jul 8, 2025 |
| Branched-chain keto acid dehydrogenase kinase deficiency | 1 | Sep 23, 2021 |
| Branchiooculofacial syndrome | 1 | Oct 12, 2020 |
| Branchiootic syndrome 1 | 1 | Mar 4, 2025 |
| Branchiootic syndrome 3 | 1 | Oct 12, 2020 |
| Breast carcinoma | 35 | Feb 7, 2023 |
| Breast neoplasm | 7 | Oct 12, 2020 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 115 | Mar 6, 2026 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 77 | Mar 6, 2026 |
| Breast-ovarian cancer, familial, susceptibility to, 3 | 17 | Jan 6, 2026 |
| Breast-ovarian cancer, familial, susceptibility to, 4 | 10 | Aug 8, 2025 |
| Breast-ovarian cancer, familial, susceptibility to, 5 | 11 | Jan 6, 2026 |
| Brittle cornea syndrome 1 | 1 | Mar 4, 2025 |
| Bronchiectasis with or without elevated sweat chloride 1 | 4 | Jun 4, 2025 |
| Bruck syndrome 1 | 1 | Oct 12, 2020 |
| Brugada syndrome 1 | 17 | Nov 14, 2025 |
| Brugada syndrome 2 | 1 | Sep 23, 2021 |
| Brugada syndrome 5 | 1 | Oct 12, 2020 |
| Brunner syndrome | 1 | Aug 8, 2025 |
| Bryant-Li-Bhoj neurodevelopmental syndrome 1 | 2 | Oct 2, 2024 |
| Bryant-Li-Bhoj neurodevelopmental syndrome 2 | 3 | Jun 4, 2025 |
| Buratti-Harel syndrome | 1 | Oct 2, 2024 |
| CAMK2D-associated neurodevelopmental disorder | 1 | Oct 2, 2024 |
| CAPRIN1-associated disorder | 1 | Aug 16, 2023 |
| CASZ1-associated cardiomyopathy | 1 | Mar 4, 2025 |
| CBL-related disorder | 1 | Sep 23, 2021 |
| CFHR5 deficiency | 2 | Oct 12, 2020 |
| CHARGE syndrome | 13 | Aug 8, 2025 |
| CHEK2-related cancer predisposition | 17 | Mar 6, 2026 |
| CLAPO syndrome | 1 | Oct 12, 2020 |
| CLDN5-associated neurodevelopmental disorder | 1 | Mar 4, 2025 |
| CLOVES syndrome | 2 | Oct 12, 2020 |
| CNOT9-associated neurodevelopmental disorder | 5 | Jan 6, 2026 |
| CSMD1-associated neurodevelopmental disorder | 2 | Mar 6, 2026 |
| CST3-related Leukodystrophy | 3 | Sep 1, 2023 |
| CTCF-related neurodevelopmental disorder | 34 | Mar 4, 2025 |
| CTNND2-associated neurodevelopmental disorder | 1 | Dec 12, 2024 |
| Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | 1 | Apr 20, 2020 |
| Camptomelic dysplasia | 1 | Mar 6, 2026 |
| Capillary malformation-arteriovenous malformation 2 | 1 | Mar 6, 2026 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 17 | Aug 8, 2025 |
| Cardiac arrest | 1 | Feb 7, 2023 |
| Cardiac arrhythmia, ankyrin-B-related | 1 | Oct 2, 2024 |
| Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | 2 | Nov 14, 2025 |
| Cardiac valvular dysplasia, X-linked | 1 | Apr 20, 2020 |
| Cardiac-urogenital syndrome | 1 | Dec 19, 2022 |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | 1 | Feb 7, 2023 |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 1 | Oct 2, 2024 |
| Cardiofaciocutaneous syndrome 1 | 5 | Jul 8, 2025 |
| Cardiofaciocutaneous syndrome 3 | 4 | Jan 6, 2026 |
| Carey-Fineman-Ziter syndrome 1 | 1 | Apr 8, 2025 |
| Carney complex, type 1 | 1 | Apr 20, 2020 |
| Carnitine acylcarnitine translocase deficiency | 2 | Mar 4, 2025 |
| Carnitine palmitoyl transferase II deficiency, myopathic form | 1 | Apr 20, 2020 |
| Cataract 1 multiple types | 1 | Apr 20, 2020 |
| Cataract 14 multiple types | 1 | Apr 20, 2020 |
| Cataract 15 multiple types | 1 | Apr 20, 2020 |
| Cataract 18 | 3 | Oct 2, 2024 |
| Cataract 22 multiple types | 1 | Jun 4, 2025 |
| Cataract 3 multiple types | 1 | Sep 29, 2021 |
| Cataract 4 multiple types | 1 | Oct 12, 2020 |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 5 | Nov 14, 2025 |
| Cenani-Lenz syndactyly syndrome | 2 | Sep 29, 2022 |
| Central core myopathy | 4 | Apr 5, 2024 |
| Central hypothyroidism | 1 | Jan 31, 2022 |
| Cerebellar ataxia | 3 | Feb 7, 2023 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 | 1 | Oct 12, 2020 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 | 5 | Oct 12, 2020 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 | 1 | Jul 8, 2025 |
| Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | 1 | Apr 20, 2020 |
| Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 6 | Mar 6, 2026 |
| Cerebral amyloid angiopathy, APP-related | 1 | Nov 14, 2025 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 22 | Jan 6, 2026 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | 5 | Mar 4, 2025 |
| Cerebral calcification | 10 | Apr 29, 2022 |
| Cerebral cavernous malformation | 7 | Jun 4, 2025 |
| Cerebral cavernous malformation 2 | 2 | Mar 6, 2026 |
| Cerebral cavernous malformation 3 | 1 | Oct 12, 2020 |
| Cerebral folate transport deficiency | 1 | Dec 5, 2025 |
| Cerebral ischemia | 1 | Mar 2, 2022 |
| Cerebral palsy, spastic quadriplegic, 3 | 1 | Oct 8, 2020 |
| Cerebroretinal microangiopathy with calcifications and cysts 1 | 2 | Nov 1, 2023 |
| Channelopathy-associated congenital insensitivity to pain, autosomal recessive | 2 | Oct 2, 2024 |
| Char syndrome | 1 | Feb 2, 2024 |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 6 | Oct 2, 2024 |
| Charcot-Marie-Tooth disease X-linked recessive 4 | 1 | Sep 29, 2021 |
| Charcot-Marie-Tooth disease axonal type 2C | 1 | Apr 29, 2022 |
| Charcot-Marie-Tooth disease axonal type 2F | 2 | Apr 8, 2025 |
| Charcot-Marie-Tooth disease axonal type 2K | 1 | Oct 12, 2020 |
| Charcot-Marie-Tooth disease axonal type 2L | 1 | Apr 20, 2020 |
| Charcot-Marie-Tooth disease axonal type 2O | 5 | Apr 5, 2024 |
| Charcot-Marie-Tooth disease axonal type 2P | 1 | Apr 20, 2020 |
| Charcot-Marie-Tooth disease axonal type 2T | 2 | Apr 29, 2022 |
| Charcot-Marie-Tooth disease axonal type 2Z | 1 | Apr 29, 2022 |
| Charcot-Marie-Tooth disease dominant intermediate C | 1 | Oct 12, 2020 |
| Charcot-Marie-Tooth disease dominant intermediate D | 3 | Sep 23, 2021 |
| Charcot-Marie-Tooth disease dominant intermediate E | 1 | Oct 12, 2020 |
| Charcot-Marie-Tooth disease type 1B | 3 | Mar 4, 2025 |
| Charcot-Marie-Tooth disease type 1C | 1 | Mar 4, 2025 |
| Charcot-Marie-Tooth disease type 1E | 1 | Sep 22, 2023 |
| Charcot-Marie-Tooth disease type 2A2 | 4 | Sep 29, 2022 |
| Charcot-Marie-Tooth disease type 2D | 2 | Oct 12, 2020 |
| Charcot-Marie-Tooth disease type 2E | 3 | Feb 7, 2023 |
| Charcot-Marie-Tooth disease type 4B2 | 3 | Dec 8, 2023 |
| Charcot-Marie-Tooth disease type 4C | 3 | Oct 2, 2024 |
| Charcot-Marie-Tooth disease type 4D | 1 | Mar 4, 2025 |
| Charcot-Marie-Tooth disease, axonal, IIa 2II | 1 | Nov 1, 2023 |
| Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; | 2 | Feb 7, 2023 |
| Charcot-Marie-Tooth disease, axonal, type 2EE | 1 | Oct 12, 2020 |
| Charcot-Marie-Tooth disease, axonal, type 2FF | 1 | Oct 28, 2022 |
| Charcot-Marie-Tooth disease, demyelinating, IIA 1I | 2 | Apr 8, 2025 |
| Charcot-Marie-Tooth disease, type IA | 2 | Dec 28, 2021 |
| Charlevoix-Saguenay spastic ataxia | 6 | Jun 4, 2025 |
| Childhood apraxia of speech | 1 | Oct 28, 2022 |
| Childhood hypophosphatasia | 1 | Oct 12, 2020 |
| Childhood onset GLUT1 deficiency syndrome 2 | 1 | Apr 8, 2025 |
| Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | 1 | Oct 12, 2020 |
| Cholestanol storage disease | 4 | Dec 19, 2022 |
| Cholestasis, progressive familial intrahepatic, 4 | 2 | Dec 12, 2024 |
| Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss | 2 | Mar 4, 2025 |
| Cholestasis-edema syndrome, Norwegian type | 2 | Mar 1, 2024 |
| Cholestasis-pigmentary retinopathy-cleft palate syndrome | 1 | Sep 16, 2025 |
| Cholesteryl ester storage disease | 1 | Mar 1, 2024 |
| Chondrodysplasia Blomstrand type | 1 | Oct 12, 2020 |
| Chopra-Amiel-Gordon syndrome | 9 | Mar 4, 2025 |
| Choroidal dystrophy, central areolar 2 | 2 | Mar 6, 2026 |
| Choroideremia | 1 | Mar 4, 2025 |
| Chromosome 15q11.2 deletion syndrome | 3 | Sep 22, 2023 |
| Chromosome 15q13.3 microdeletion syndrome | 5 | Sep 22, 2023 |
| Chromosome 16p11.2 duplication syndrome | 1 | Dec 28, 2021 |
| Chromosome 16p12.1 deletion syndrome, 520kb | 4 | Dec 28, 2021 |
| Chromosome 17q12 deletion syndrome | 2 | Sep 22, 2023 |
| Chromosome 1p32-p31 deletion syndrome | 3 | Apr 29, 2022 |
| Chromosome 1q21.1 deletion syndrome | 4 | Sep 22, 2023 |
| Chromosome 1q21.1 duplication syndrome | 2 | Sep 22, 2023 |
| Chromosome 22q11.2 deletion syndrome, distal | 4 | Sep 22, 2023 |
| Chromosome 22q11.2 microduplication syndrome | 2 | Sep 22, 2023 |
| Chromosome 22q13 duplication syndrome | 1 | Sep 22, 2023 |
| Chromosome 2q32-q33 deletion syndrome | 8 | Apr 8, 2025 |
| Chromosome 2q37 deletion syndrome | 1 | Oct 12, 2020 |
| Chromosome 3q29 microdeletion syndrome | 1 | Dec 28, 2021 |
| Chromosome 5Q14.3 deletion syndrome, distal | 2 | Jan 10, 2025 |
| Chromosome Xq28 duplication syndrome | 1 | Sep 22, 2023 |
| Chronic infantile neurological, cutaneous and articular syndrome | 1 | Apr 8, 2025 |
| Chronic kidney disease | 1 | Oct 12, 2020 |
| Ciliary dyskinesia, primary, 40 | 1 | Oct 12, 2020 |
| Citrullinemia type I | 2 | Jun 4, 2025 |
| Citrullinemia type II | 1 | Oct 12, 2020 |
| Clark-Baraitser syndrome | 6 | Dec 8, 2023 |
| Class III obesity | 1 | Jan 31, 2022 |
| Classic homocystinuria | 1 | Oct 8, 2020 |
| Cleidocranial dysostosis | 4 | Oct 10, 2025 |
| Clinodactyly | 1 | Apr 14, 2023 |
| Clubfoot | 3 | Apr 5, 2024 |
| Coarse facial features | 1 | Feb 7, 2023 |
| Cobalamin C disease | 3 | Dec 28, 2021 |
| Cockayne syndrome type 2 | 3 | Oct 2, 2024 |
| Coffin-Lowry syndrome | 4 | Mar 6, 2026 |
| Coffin-Siris syndrome 1 | 20 | Mar 6, 2026 |
| Coffin-Siris syndrome 10 | 3 | Sep 16, 2025 |
| Coffin-Siris syndrome 12 | 1 | Jun 4, 2025 |
| Coffin-Siris syndrome 6 | 3 | Sep 23, 2021 |
| Coffin-Siris syndrome 8 | 2 | Sep 23, 2021 |
| Cognitive impairment with or without cerebellar ataxia | 16 | Mar 6, 2026 |
| Cohen syndrome | 14 | Nov 14, 2025 |
| Cohen-Gibson syndrome | 1 | Oct 2, 2024 |
| Colorectal cancer | 4 | Aug 16, 2023 |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 19 | Mar 6, 2026 |
| Colorectal cancer, hereditary nonpolyposis, type 6 | 1 | Jul 22, 2021 |
| Colorectal cancer, hereditary nonpolyposis, type 7 | 1 | Jul 22, 2021 |
| Colorectal cancer, susceptibility to, 12 | 1 | Jun 3, 2022 |
| Colorectal polyposis | 1 | Oct 12, 2020 |
| Combined immunodeficiency due to DOCK8 deficiency | 2 | Apr 5, 2024 |
| Combined immunodeficiency due to LRBA deficiency | 1 | Sep 16, 2025 |
| Combined immunodeficiency due to ZAP70 deficiency | 1 | Oct 12, 2020 |
| Combined immunodeficiency due to moesin deficiency | 1 | Oct 12, 2020 |
| Combined immunodeficiency due to partial RAG1 deficiency | 1 | Apr 20, 2020 |
| Combined immunodeficiency with skin granulomas | 3 | Oct 2, 2024 |
| Combined immunodeficiency, X-linked | 1 | Apr 20, 2020 |
| Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | 1 | Aug 16, 2023 |
| Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | 1 | Jul 22, 2021 |
| Combined oxidative phosphorylation defect type 14 | 1 | Mar 4, 2025 |
| Combined oxidative phosphorylation defect type 15 | 2 | Apr 5, 2024 |
| Combined oxidative phosphorylation defect type 24 | 2 | Nov 14, 2025 |
| Combined oxidative phosphorylation defect type 27 | 1 | Oct 2, 2024 |
| Combined oxidative phosphorylation defect type 7 | 1 | Oct 2, 2024 |
| Combined oxidative phosphorylation deficiency 35 | 2 | Apr 5, 2024 |
| Combined oxidative phosphorylation deficiency 53 | 1 | Apr 8, 2025 |
| Complement component 5 deficiency | 1 | Oct 12, 2020 |
| Complex cortical dysplasia with other brain malformations 1 | 3 | Oct 2, 2024 |
| Complex cortical dysplasia with other brain malformations 2 | 10 | Dec 12, 2024 |
| Complex cortical dysplasia with other brain malformations 4 | 1 | Dec 12, 2024 |
| Complex cortical dysplasia with other brain malformations 5 | 3 | Apr 8, 2025 |
| Complex cortical dysplasia with other brain malformations 6 | 3 | Aug 8, 2025 |
| Complex cortical dysplasia with other brain malformations 7 | 4 | Mar 4, 2025 |
| Complex febrile seizure | 1 | Sep 29, 2022 |
| Concentric hypertrophic cardiomyopathy | 2 | Dec 28, 2021 |
| Concomitant strabismus | 1 | Dec 28, 2021 |
| Cone dystrophy 4 | 1 | Mar 4, 2025 |
| Cone dystrophy with supernormal rod response | 1 | Oct 12, 2020 |
| Cone-rod dystrophy 12 | 4 | Oct 2, 2024 |
| Cone-rod dystrophy 15 | 3 | Jan 31, 2022 |
| Cone-rod dystrophy 2 | 1 | Dec 12, 2024 |
| Cone-rod dystrophy 21 | 2 | Oct 4, 2021 |
| Cone-rod dystrophy 3 | 9 | Oct 2, 2024 |
| Cone-rod dystrophy 6 | 2 | Mar 2, 2022 |
| Cone-rod dystrophy 7 | 1 | Oct 2, 2024 |
| Cone-rod synaptic disorder, congenital nonprogressive | 1 | Apr 20, 2020 |
| Congenital adrenal hypoplasia, X-linked | 1 | Sep 29, 2022 |
| Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | 1 | Oct 12, 2020 |
| Congenital anomalies of kidney and urinary tract 1 | 1 | Oct 2, 2024 |
| Congenital anomaly of kidney and urinary tract | 30 | Nov 17, 2021 |
| Congenital bilateral aplasia of vas deferens from CFTR mutation | 2 | Dec 12, 2024 |
| Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome | 1 | Oct 12, 2020 |
| Congenital contractural arachnodactyly | 2 | Mar 4, 2025 |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | 5 | Oct 28, 2022 |
| Congenital diarrhea 5 with tufting enteropathy | 1 | Apr 20, 2020 |
| Congenital disorder of deglycosylation | 1 | Oct 12, 2020 |
| Congenital disorder of deglycosylation 1 | 1 | Dec 5, 2025 |
| Congenital disorder of glycosylation | 1 | Oct 12, 2020 |
| Congenital disorder of glycosylation type Ir | 1 | Apr 14, 2023 |
| Congenital disorder of glycosylation, type Iw, autosomal dominant | 1 | Dec 8, 2023 |
| Congenital disorder of glycosylation, type iit | 1 | Mar 7, 2021 |
| Congenital factor VII deficiency | 2 | Feb 6, 2024 |
| Congenital fibrosis of extraocular muscles type 1 | 1 | Oct 2, 2024 |
| Congenital generalized lipodystrophy type 1 | 1 | Sep 23, 2021 |
| Congenital heart defects and ectodermal dysplasia | 3 | Mar 6, 2026 |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 3 | Mar 4, 2025 |
| Congenital heart defects, multiple types, 2 | 1 | Oct 2, 2024 |
| Congenital heart defects, multiple types, 6 | 1 | Aug 16, 2023 |
| Congenital heart defects, multiple types, 7 | 1 | Sep 23, 2021 |
| Congenital hyperammonemia, type I | 3 | Sep 16, 2025 |
| Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | 3 | Nov 1, 2023 |
| Congenital insensitivity to pain-hypohidrosis syndrome | 1 | Apr 20, 2020 |
| Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | 4 | Jun 4, 2025 |
| Congenital microvillous atrophy | 2 | Apr 29, 2022 |
| Congenital multicore myopathy with external ophthalmoplegia | 3 | Mar 4, 2025 |
| Congenital muscular dystrophy due to integrin alpha-7 deficiency | 1 | Apr 20, 2020 |
| Congenital muscular hypertrophy-cerebral syndrome | 2 | Oct 10, 2025 |
| Congenital myasthenic syndrome 10 | 2 | Mar 6, 2026 |
| Congenital myasthenic syndrome 19 | 1 | Sep 4, 2023 |
| Congenital myasthenic syndrome 5 | 2 | Apr 20, 2020 |
| Congenital myasthenic syndrome 7 | 1 | Apr 20, 2020 |
| Congenital myopathy 4A, autosomal dominant | 1 | Nov 14, 2025 |
| Congenital myopathy 4B, autosomal recessive | 2 | Jan 31, 2022 |
| Congenital myopathy with fiber type disproportion | 1 | Sep 23, 2021 |
| Congenital myopathy with internal nuclei and atypical cores | 1 | Jun 4, 2025 |
| Congenital myotonia, autosomal dominant form | 8 | Apr 8, 2025 |
| Congenital myotonia, autosomal recessive form | 6 | Mar 6, 2026 |
| Congenital ocular coloboma | 1 | Dec 28, 2021 |
| Congenital stationary night blindness 1A | 1 | Jan 6, 2026 |
| Congenital stationary night blindness 1C | 1 | Oct 12, 2020 |
| Congenital stationary night blindness 1E | 2 | Oct 2, 2024 |
| Congenital stationary night blindness 2A | 2 | Oct 2, 2024 |
| Congenital stationary night blindness autosomal dominant 2 | 2 | Oct 2, 2024 |
| Constipation | 1 | Jul 22, 2022 |
| Cornelia de Lange syndrome 1 | 11 | Mar 6, 2026 |
| Cornelia de Lange syndrome 3 | 4 | Oct 2, 2024 |
| Cornelia de Lange syndrome 4 | 1 | May 15, 2023 |
| Coronary heart disease, susceptibility to, 5 | 1 | Oct 12, 2020 |
| Cortical dysplasia-focal epilepsy syndrome | 1 | Oct 2, 2024 |
| Corticosterone 18-monooxygenase deficiency | 1 | Jul 22, 2022 |
| Costello syndrome | 1 | Apr 20, 2020 |
| Cowden syndrome 1 | 15 | Mar 6, 2026 |
| Cowden syndrome 5 | 1 | Apr 8, 2025 |
| Coxopodopatellar syndrome | 1 | Apr 20, 2020 |
| Craniofacial asymmetry | 1 | Sep 29, 2022 |
| Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 | 2 | Feb 25, 2020 |
| Craniofrontonasal syndrome | 1 | Feb 2, 2024 |
| Craniosynostosis 7 | 4 | Dec 5, 2025 |
| Creatine transporter deficiency | 9 | Sep 16, 2025 |
| Crouzon syndrome | 2 | Sep 16, 2025 |
| Crouzon syndrome-acanthosis nigricans syndrome | 1 | Aug 16, 2023 |
| Cryptosporidiosis-chronic cholangitis-liver disease syndrome | 1 | Oct 12, 2020 |
| Curry-Hall syndrome | 1 | Aug 16, 2023 |
| Cutis laxa, autosomal dominant 1 | 1 | Oct 12, 2020 |
| Cutis laxa, autosomal dominant 2 | 1 | Oct 12, 2020 |
| Cutis laxa, autosomal dominant 3 | 1 | Apr 20, 2020 |
| Cystic fibrosis | 379 | Mar 6, 2026 |
| Cystic leukoencephalopathy without megalencephaly | 1 | Apr 5, 2024 |
| Cystic renal dysplasia | 1 | Oct 12, 2020 |
| Cystinuria | 6 | Mar 4, 2025 |
| DDX17-associated neurodevelopmental disorder | 1 | Jan 6, 2026 |
| DDX41-related hematologic malignancy predisposition syndrome | 2 | Mar 6, 2026 |
| DENNDB5-associated neurodevelopmental disorder | 1 | Oct 10, 2025 |
| DHX36-associated disorder | 1 | Oct 2, 2024 |
| DHX9-associated neurodevelopmental disorder | 1 | Oct 2, 2024 |
| DICER1-related tumor predisposition | 1 | Apr 20, 2020 |
| DMAP1-associated disorder | 2 | Apr 5, 2024 |
| DNA ligase IV deficiency | 1 | Oct 12, 2020 |
| DOCK2 deficiency | 1 | Oct 12, 2020 |
| DOORS syndrome | 1 | Oct 12, 2020 |
| DSCAM-associated neurodevelopmental disorder | 1 | Sep 16, 2025 |
| DYRK1A-related intellectual disability syndrome | 11 | Jul 8, 2025 |
| Dalmatian hypouricemia | 1 | Mar 1, 2024 |
| Danon disease | 1 | Sep 23, 2021 |
| DeSanto-Shinawi syndrome due to WAC point mutation | 5 | Dec 5, 2025 |
| Deafness dystonia syndrome | 1 | Sep 23, 2021 |
| Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | 1 | Oct 12, 2020 |
| Deafness-lymphedema-leukemia syndrome | 1 | Oct 12, 2020 |
| Decreased body weight | 1 | Nov 23, 2021 |
| Deficiency of 2-methylbutyryl-CoA dehydrogenase | 2 | Aug 8, 2025 |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 1 | Apr 20, 2020 |
| Deficiency of adenosine deaminase 2 | 2 | Mar 2, 2022 |
| Deficiency of alpha-mannosidase | 1 | Apr 20, 2020 |
| Deficiency of butyryl-CoA dehydrogenase | 2 | Jan 6, 2026 |
| Deficiency of butyrylcholinesterase | 2 | Oct 2, 2024 |
| Deficiency of ferroxidase | 2 | Mar 6, 2026 |
| Deficiency of guanidinoacetate methyltransferase | 5 | Jan 6, 2026 |
| Deficiency of ribose-5-phosphate isomerase | 1 | Apr 20, 2020 |
| Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | 1 | Oct 12, 2020 |
| Delayed ability to walk | 1 | Jun 3, 2022 |
| Delayed early-childhood social milestone development | 1 | Apr 14, 2023 |
| Delayed fine motor development | 1 | Feb 7, 2023 |
| Delayed gross motor development | 1 | Feb 7, 2023 |
| Delayed speech and language development | 9 | Apr 14, 2023 |
| Deletion of short arm of chromosome 18 | 1 | Dec 28, 2021 |
| Dent disease type 1 | 4 | Mar 4, 2025 |
| Dent disease type 2 | 2 | Oct 12, 2020 |
| Dermatitis, atopic, 2 | 2 | Oct 2, 2024 |
| Desmin-related myofibrillar myopathy | 1 | Nov 1, 2023 |
| Developmental and epileptic encephalopathy | 25 | Sep 23, 2021 |
| Developmental and epileptic encephalopathy 103 | 2 | Mar 4, 2025 |
| Developmental and epileptic encephalopathy 104 | 2 | Jul 8, 2025 |
| Developmental and epileptic encephalopathy 108 | 2 | Mar 4, 2025 |
| Developmental and epileptic encephalopathy 112 | 3 | Mar 4, 2025 |
| Developmental and epileptic encephalopathy 6B | 4 | Apr 8, 2025 |
| Developmental and epileptic encephalopathy 91 | 1 | Mar 6, 2026 |
| Developmental and epileptic encephalopathy 92 | 6 | Nov 14, 2025 |
| Developmental and epileptic encephalopathy 93 | 3 | Oct 2, 2024 |
| Developmental and epileptic encephalopathy 94 | 23 | Mar 6, 2026 |
| Developmental and epileptic encephalopathy 96 | 2 | Oct 2, 2024 |
| Developmental and epileptic encephalopathy 97 | 1 | Aug 8, 2025 |
| Developmental and epileptic encephalopathy 98 | 3 | Apr 8, 2025 |
| Developmental and epileptic encephalopathy 99 | 2 | Jul 8, 2025 |
| Developmental and epileptic encephalopathy, 1 | 11 | Mar 4, 2025 |
| Developmental and epileptic encephalopathy, 11 | 30 | Mar 6, 2026 |
| Developmental and epileptic encephalopathy, 13 | 33 | Oct 10, 2025 |
| Developmental and epileptic encephalopathy, 14 | 11 | Dec 5, 2025 |
| Developmental and epileptic encephalopathy, 16 | 2 | Apr 5, 2024 |
| Developmental and epileptic encephalopathy, 17 | 6 | Mar 4, 2025 |
| Developmental and epileptic encephalopathy, 18 | 11 | Oct 10, 2025 |
| Developmental and epileptic encephalopathy, 19 | 7 | Jul 8, 2025 |
| Developmental and epileptic encephalopathy, 2 | 28 | Mar 6, 2026 |
| Developmental and epileptic encephalopathy, 21 | 1 | Oct 2, 2024 |
| Developmental and epileptic encephalopathy, 23 | 1 | Oct 12, 2020 |
| Developmental and epileptic encephalopathy, 24 | 4 | Oct 2, 2024 |
| Developmental and epileptic encephalopathy, 25 | 1 | Apr 20, 2020 |
| Developmental and epileptic encephalopathy, 26 | 12 | Apr 5, 2024 |
| Developmental and epileptic encephalopathy, 27 | 9 | Apr 8, 2025 |
| Developmental and epileptic encephalopathy, 28 | 8 | Dec 5, 2025 |
| Developmental and epileptic encephalopathy, 29 | 1 | Oct 12, 2020 |
| Developmental and epileptic encephalopathy, 3 | 1 | Apr 5, 2024 |
| Developmental and epileptic encephalopathy, 31A | 8 | Mar 4, 2025 |
| Developmental and epileptic encephalopathy, 31B | 2 | Oct 2, 2024 |
| Developmental and epileptic encephalopathy, 32 | 7 | Mar 6, 2026 |
| Developmental and epileptic encephalopathy, 33 | 5 | Dec 5, 2025 |
| Developmental and epileptic encephalopathy, 36 | 4 | Oct 12, 2020 |
| Developmental and epileptic encephalopathy, 37 | 1 | Oct 8, 2020 |
| Developmental and epileptic encephalopathy, 38 | 2 | Oct 12, 2020 |
| Developmental and epileptic encephalopathy, 39 | 1 | Oct 12, 2020 |
| Developmental and epileptic encephalopathy, 4 | 35 | Aug 8, 2025 |
| Developmental and epileptic encephalopathy, 42 | 32 | Jan 6, 2026 |
| Developmental and epileptic encephalopathy, 43 | 10 | Mar 6, 2026 |
| Developmental and epileptic encephalopathy, 44 | 2 | Oct 2, 2024 |
| Developmental and epileptic encephalopathy, 45 | 4 | Apr 8, 2025 |
| Developmental and epileptic encephalopathy, 46 | 10 | Mar 4, 2025 |
| Developmental and epileptic encephalopathy, 47 | 1 | Jun 3, 2022 |
| Developmental and epileptic encephalopathy, 48 | 1 | Oct 2, 2024 |
| Developmental and epileptic encephalopathy, 49 | 2 | Aug 16, 2023 |
| Developmental and epileptic encephalopathy, 5 | 32 | Apr 8, 2025 |
| Developmental and epileptic encephalopathy, 51 | 1 | Oct 12, 2020 |
| Developmental and epileptic encephalopathy, 54 | 6 | Dec 5, 2025 |
| Developmental and epileptic encephalopathy, 56 | 4 | Jun 4, 2025 |
| Developmental and epileptic encephalopathy, 57 | 3 | May 17, 2023 |
| Developmental and epileptic encephalopathy, 58 | 2 | Mar 6, 2026 |
| Developmental and epileptic encephalopathy, 60 | 1 | May 17, 2023 |
| Developmental and epileptic encephalopathy, 62 | 17 | Apr 5, 2024 |
| Developmental and epileptic encephalopathy, 63 | 2 | Nov 23, 2021 |
| Developmental and epileptic encephalopathy, 64 | 4 | Jun 4, 2025 |
| Developmental and epileptic encephalopathy, 65 | 3 | Jan 6, 2026 |
| Developmental and epileptic encephalopathy, 66 | 1 | Aug 8, 2025 |
| Developmental and epileptic encephalopathy, 67 | 2 | Dec 12, 2024 |
| Developmental and epileptic encephalopathy, 69 | 6 | Oct 2, 2024 |
| Developmental and epileptic encephalopathy, 7 | 25 | Jan 6, 2026 |
| Developmental and epileptic encephalopathy, 70 | 1 | Oct 12, 2020 |
| Developmental and epileptic encephalopathy, 71 | 3 | Nov 23, 2021 |
| Developmental and epileptic encephalopathy, 72 | 2 | Mar 4, 2025 |
| Developmental and epileptic encephalopathy, 74 | 4 | Apr 5, 2024 |
| Developmental and epileptic encephalopathy, 75 | 2 | Oct 12, 2020 |
| Developmental and epileptic encephalopathy, 76 | 1 | Oct 12, 2020 |
| Developmental and epileptic encephalopathy, 78 | 2 | Dec 12, 2024 |
| Developmental and epileptic encephalopathy, 8 | 4 | Oct 10, 2025 |
| Developmental and epileptic encephalopathy, 83 | 2 | Oct 2, 2024 |
| Developmental and epileptic encephalopathy, 85, with or without midline brain defects | 3 | Aug 16, 2023 |
| Developmental and epileptic encephalopathy, 87 | 1 | Oct 12, 2020 |
| Developmental and epileptic encephalopathy, 9 | 16 | Nov 14, 2025 |
| Developmental and epileptic encephalopathy-107 | 1 | May 17, 2023 |
| Developmental delay and seizures with or without movement abnormalities | 4 | Aug 8, 2025 |
| Developmental delay with autism spectrum disorder and gait instability | 3 | Oct 2, 2024 |
| Developmental delay with dysmorphic facies and dental anomalies | 5 | Mar 6, 2026 |
| Developmental delay with or without dysmorphic facies and autism | 10 | Jun 4, 2025 |
| Developmental delay with or without epilepsy | 3 | Aug 8, 2025 |
| Developmental delay with or without intellectual impairment or behavioral abnormalities | 10 | Mar 6, 2026 |
| Developmental delay with short stature, dysmorphic facial features, and sparse hair | 1 | Oct 12, 2020 |
| Developmental delay with variable intellectual impairment and behavioral abnormalities | 6 | Aug 8, 2025 |
| Developmental delay, behavioral abnormalities, and neuropsychiatric disorders | 2 | Mar 6, 2026 |
| Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities | 2 | Oct 2, 2024 |
| Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy | 2 | Sep 29, 2022 |
| Developmental delay, impaired speech, and behavioral abnormalities | 3 | Mar 6, 2026 |
| Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | 6 | Mar 4, 2025 |
| Developmental delay, language impairment, and ocular abnormalities | 1 | Nov 14, 2025 |
| Developmental regression | 1 | Feb 7, 2023 |
| DiGeorge syndrome | 3 | Apr 5, 2024 |
| Diabetes mellitus | 1 | Jan 31, 2022 |
| Diabetes, deafness, developmental delay, and short stature syndrome | 1 | Jun 4, 2025 |
| Diabetes-deafness syndrome maternally transmitted | 1 | Jan 6, 2026 |
| Diamond-Blackfan anemia 6 | 1 | Oct 10, 2025 |
| Diamond-Blackfan anemia 7 | 1 | Oct 2, 2024 |
| Diaphragmatic hernia 3 | 2 | Jul 8, 2025 |
| Diarrhea | 1 | Jan 31, 2022 |
| Dias-Logan syndrome | 4 | Dec 19, 2022 |
| Diastrophic dysplasia | 2 | Sep 23, 2021 |
| Diencephalic-mesencephalic junction dysplasia syndrome 1 | 1 | Mar 4, 2025 |
| Diets-Jongmans syndrome | 1 | May 17, 2023 |
| Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | 6 | Sep 29, 2022 |
| Dihydropyrimidine dehydrogenase deficiency | 2 | Jul 22, 2022 |
| Dilated cardiomyopathy 1A | 6 | Jan 31, 2022 |
| Dilated cardiomyopathy 1AA | 1 | Jan 10, 2025 |
| Dilated cardiomyopathy 1CC | 1 | Oct 12, 2020 |
| Dilated cardiomyopathy 1D | 5 | Mar 6, 2026 |
| Dilated cardiomyopathy 1E | 5 | Mar 4, 2025 |
| Dilated cardiomyopathy 1EE | 1 | Oct 12, 2020 |
| Dilated cardiomyopathy 1G | 24 | Jan 6, 2026 |
| Dilated cardiomyopathy 1GG | 1 | Oct 12, 2020 |
| Dilated cardiomyopathy 1HH | 2 | Jul 8, 2025 |
| Dilated cardiomyopathy 1I | 1 | Apr 29, 2022 |
| Dilated cardiomyopathy 1JJ | 2 | Oct 2, 2024 |
| Dilated cardiomyopathy 1NN | 1 | Apr 20, 2020 |
| Dilated cardiomyopathy 1R | 1 | Oct 10, 2025 |
| Dilated cardiomyopathy 1S | 12 | Dec 12, 2024 |
| Dilated cardiomyopathy 3B | 3 | Apr 14, 2023 |
| Disproportionate short stature | 2 | Sep 29, 2022 |
| Distal 10q deletion syndrome | 1 | Sep 22, 2023 |
| Distal 16p11.2 microdeletion syndrome | 12 | Sep 22, 2023 |
| Distal 7q11.23 microdeletion syndrome | 1 | Dec 28, 2021 |
| Distal arthrogryposis type 2B1 | 1 | Sep 23, 2021 |
| Distal arthrogryposis type 5D | 2 | Mar 1, 2024 |
| Distal myopathy with posterior leg and anterior hand involvement | 1 | Sep 23, 2021 |
| Dominant beta-thalassemia | 4 | Mar 6, 2026 |
| Donnai-Barrow syndrome | 1 | Oct 12, 2020 |
| Dopa-responsive dystonia due to sepiapterin reductase deficiency | 1 | Sep 29, 2021 |
| Dowling-Degos disease 1 | 1 | Oct 12, 2020 |
| Duane-radial ray syndrome | 1 | Oct 2, 2024 |
| Duchenne muscular dystrophy | 15 | Mar 6, 2026 |
| Dyggve-Melchior-Clausen syndrome | 1 | Oct 12, 2020 |
| Dyskeratosis congenita, autosomal dominant 2 | 1 | Apr 20, 2020 |
| Dyskinesia with orofacial involvement, autosomal dominant | 3 | Dec 19, 2022 |
| Dystonia 12 | 3 | Apr 8, 2025 |
| Dystonia 28, childhood-onset | 4 | Apr 29, 2022 |
| Dystonia 30 | 3 | Oct 10, 2025 |
| Dystonia 5 | 4 | Oct 2, 2024 |
| EAST syndrome | 1 | Apr 20, 2020 |
| EEG abnormality | 1 | Feb 7, 2023 |
| EP400-associated neurodevelopmental disorder | 1 | Apr 8, 2025 |
| EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 | 2 | Oct 4, 2021 |
| EZH1-associated neurodevelopmental disorder | 1 | Jan 6, 2026 |
| Early-onset myopathy with fatal cardiomyopathy | 1 | Oct 12, 2020 |
| Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | 5 | Dec 12, 2024 |
| Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | 1 | Apr 20, 2020 |
| Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | 1 | Apr 20, 2020 |
| Ectopic posterior pituitary | 1 | Jan 31, 2022 |
| Ehlers-Danlos syndrome due to tenascin-X deficiency | 1 | Sep 23, 2021 |
| Ehlers-Danlos syndrome, arthrochalasia type, 2 | 1 | Oct 12, 2020 |
| Ehlers-Danlos syndrome, classic type | 2 | Oct 12, 2020 |
| Ehlers-Danlos syndrome, classic type, 1 | 4 | Dec 12, 2024 |
| Ehlers-Danlos syndrome, classic type, 2 | 3 | Oct 12, 2020 |
| Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | 1 | Apr 20, 2020 |
| Ehlers-Danlos syndrome, musculocontractural type | 2 | Oct 12, 2020 |
| Ehlers-Danlos syndrome, musculocontractural type 2 | 1 | Mar 4, 2025 |
| Ehlers-Danlos syndrome, periodontal type 2 | 1 | Apr 20, 2020 |
| Ehlers-Danlos syndrome, spondylocheirodysplastic type | 1 | Dec 5, 2025 |
| Ehlers-Danlos syndrome, type 4 | 6 | Apr 8, 2025 |
| Eichsfeld type congenital muscular dystrophy | 4 | Oct 2, 2024 |
| El Hayek-Chahrour neurodevelopmental disorder | 1 | Jan 6, 2026 |
| Elevated circulating alanine aminotransferase concentration | 1 | Jan 31, 2022 |
| Elevated circulating aspartate aminotransferase concentration | 1 | Jan 31, 2022 |
| Elliptocytosis 2 | 2 | Sep 23, 2021 |
| Ellis-van Creveld syndrome | 3 | Sep 16, 2025 |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 2 | Aug 8, 2025 |
| Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 2 | Oct 12, 2020 |
| Encephalitis, acute, infection (viral)-induced, susceptibility to, 11 | 2 | Aug 8, 2025 |
| Encephalopathy due to GLUT1 deficiency | 14 | Aug 8, 2025 |
| Encephalopathy, acute, infection-induced, susceptibility to, 4 | 1 | Apr 20, 2020 |
| Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | 4 | Feb 6, 2024 |
| Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome | 1 | Oct 2, 2024 |
| Endometrial carcinoma | 3 | May 17, 2023 |
| Ependymoma | 1 | Sep 29, 2022 |
| Epicanthus | 1 | Feb 7, 2023 |
| Epidermolysis bullosa simplex 1C, localized | 2 | Aug 8, 2025 |
| Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive | 1 | Apr 8, 2025 |
| Epidermolysis bullosa simplex 5B, with muscular dystrophy | 2 | Oct 12, 2020 |
| Epidermolytic hyperkeratosis 1 | 1 | Mar 4, 2025 |
| Epilepsy | 15 | Mar 4, 2021 |
| Epilepsy with myoclonic atonic seizures | 19 | Nov 14, 2025 |
| Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | 2 | Feb 7, 2023 |
| Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features | 3 | Jun 4, 2025 |
| Epilepsy, childhood absence, susceptibility to, 5 | 2 | Oct 2, 2024 |
| Epilepsy, early-onset, 3, with or without developmental delay | 1 | Oct 2, 2024 |
| Epilepsy, early-onset, with or without developmental delay | 2 | Dec 8, 2023 |
| Epilepsy, familial adult myoclonic, 7 | 1 | Oct 12, 2020 |
| Epilepsy, familial focal, with variable foci 1 | 28 | Mar 6, 2026 |
| Epilepsy, familial focal, with variable foci 2 | 6 | Oct 10, 2025 |
| Epilepsy, familial focal, with variable foci 3 | 19 | Jan 6, 2026 |
| Epilepsy, familial focal, with variable foci 4 | 2 | Apr 8, 2025 |
| Epilepsy, familial temporal lobe, 1 | 8 | Oct 2, 2024 |
| Epilepsy, idiopathic generalized, susceptibility to, 10 | 2 | Oct 2, 2024 |
| Epilepsy, idiopathic generalized, susceptibility to, 12 | 3 | Jul 8, 2025 |
| Epilepsy, idiopathic generalized, susceptibility to, 15 | 4 | Oct 10, 2025 |
| Epilepsy, idiopathic generalized, susceptibility to, 16 | 1 | Oct 12, 2020 |
| Epilepsy, idiopathic generalized, susceptibility to, 17 | 5 | Jun 4, 2025 |
| Epilepsy, juvenile myoclonic, susceptibility to, 10 | 1 | Jul 22, 2022 |
| Epilepsy, progressive myoclonic, 11 | 3 | Mar 4, 2025 |
| Epilepsy, progressive myoclonic, 1B | 1 | Mar 1, 2024 |
| Epileptic encephalopathy | 3 | Apr 14, 2023 |
| Epiphyseal dysplasia | 1 | Sep 29, 2022 |
| Epiphyseal dysplasia, multiple, 2 | 1 | Oct 12, 2020 |
| Episodic ataxia type 1 | 7 | Mar 6, 2026 |
| Episodic ataxia type 2 | 7 | Nov 14, 2025 |
| Episodic ataxia type 6 | 2 | Apr 29, 2022 |
| Episodic kinesigenic dyskinesia 1 | 1 | Mar 6, 2026 |
| Episodic pain syndrome, familial, 2 | 3 | Feb 2, 2024 |
| Epsilon-trimethyllysine hydroxylase deficiency | 1 | Oct 12, 2020 |
| Erythrocytosis, familial, 4 | 1 | Apr 8, 2025 |
| Erythrocytosis, familial, 7 | 1 | Oct 10, 2025 |
| Exercise-induced hyperinsulinism | 1 | Oct 28, 2022 |
| Exocrine pancreatic insufficiency | 1 | Sep 29, 2022 |
| Exostoses, multiple, type 1 | 5 | Mar 6, 2026 |
| Exostoses, multiple, type 2 | 2 | Oct 2, 2024 |
| Exudative vitreoretinopathy 1 | 1 | Mar 6, 2026 |
| Exudative vitreoretinopathy 5 | 1 | Apr 20, 2020 |
| FG syndrome 1 | 3 | Oct 2, 2024 |
| FG syndrome 4 | 4 | Dec 5, 2025 |
| FOXG1 disorder | 62 | Jun 4, 2025 |
| FRAXE | 3 | Sep 16, 2025 |
| FRYL-associated neurodevelopmental disorder | 1 | Aug 16, 2023 |
| Fabry disease | 3 | Mar 4, 2025 |
| Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | 1 | Mar 1, 2024 |
| Facial hypotonia | 1 | Dec 28, 2021 |
| Facioscapulohumeral muscular dystrophy 2 | 1 | Sep 23, 2021 |
| Failure to thrive | 4 | Jul 22, 2022 |
| Familial Mediterranean fever | 3 | Sep 16, 2025 |
| Familial Mediterranean fever, autosomal dominant | 3 | Oct 10, 2025 |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 7 | Mar 6, 2026 |
| Familial adenomatous polyposis 1 | 17 | Nov 14, 2025 |
| Familial adenomatous polyposis 2 | 4 | Dec 5, 2025 |
| Familial cancer of breast | 235 | Mar 6, 2026 |
| Familial cold autoinflammatory syndrome 2 | 1 | Sep 16, 2025 |
| Familial encephalopathy with neuroserpin inclusion bodies | 1 | Apr 20, 2020 |
| Familial episodic pain syndrome with predominantly lower limb involvement | 1 | Aug 16, 2023 |
| Familial expansile osteolysis | 1 | Aug 16, 2023 |
| Familial hemophagocytic lymphohistiocytosis 2 | 1 | Apr 20, 2020 |
| Familial hemophagocytic lymphohistiocytosis 3 | 2 | Oct 2, 2024 |
| Familial hypobetalipoproteinemia 1 | 1 | Sep 23, 2021 |
| Familial hypocalciuric hypercalcemia 3 | 1 | Oct 12, 2020 |
| Familial hypokalemia-hypomagnesemia | 5 | Jul 8, 2025 |
| Familial juvenile hyperuricemic nephropathy type 1 | 1 | Oct 2, 2024 |
| Familial multiple nevi flammei | 1 | Oct 28, 2022 |
| Familial pancreatic carcinoma | 1 | Oct 2, 2024 |
| Familial partial lipodystrophy, Dunnigan type | 7 | Mar 6, 2026 |
| Familial porphyria cutanea tarda | 1 | Apr 14, 2023 |
| Familial prostate cancer | 1 | Apr 8, 2025 |
| Familial renal glucosuria | 1 | Apr 20, 2020 |
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness | 1 | Oct 12, 2020 |
| Familial temporal lobe epilepsy 5 | 1 | Sep 23, 2021 |
| Familial temporal lobe epilepsy 7 | 5 | Oct 2, 2024 |
| Familial type 3 hyperlipoproteinemia | 1 | Jan 10, 2025 |
| Familial visceral amyloidosis, Ostertag type | 1 | Oct 12, 2020 |
| Fanconi anemia complementation group A | 1 | Apr 20, 2020 |
| Fanconi anemia complementation group B | 1 | Oct 12, 2020 |
| Fanconi anemia complementation group C | 1 | Oct 12, 2020 |
| Fanconi anemia complementation group G | 1 | Apr 29, 2022 |
| Fanconi anemia complementation group J | 1 | Sep 23, 2021 |
| Fanconi anemia, complementation group S | 1 | Sep 23, 2021 |
| Fanconi-Bickel syndrome | 1 | Apr 20, 2020 |
| Fatty acyl-CoA reductase 1 deficiency | 2 | Apr 8, 2025 |
| Faundes-Banka syndrome | 1 | Feb 2, 2024 |
| Febrile seizure (within the age range of 3 months to 6 years) | 1 | Feb 7, 2023 |
| Febrile seizures, familial, 11 | 2 | Oct 2, 2024 |
| Febrile seizures, familial, 2 | 1 | Sep 4, 2023 |
| Febrile seizures, familial, 8 | 10 | Mar 6, 2026 |
| Feingold syndrome type 1 | 3 | Nov 14, 2025 |
| Fetal hemoglobin quantitative trait locus 1 | 2 | Oct 12, 2020 |
| Fibrosis, neurodegeneration, and cerebral angiomatosis | 1 | Apr 5, 2024 |
| Filippi syndrome | 1 | Oct 8, 2020 |
| Finnish congenital nephrotic syndrome | 3 | Jan 6, 2026 |
| Flattened epiphysis | 1 | Sep 29, 2022 |
| Fliedner-Zweier syndrome | 3 | Dec 12, 2024 |
| Floating-Harbor syndrome | 3 | Oct 2, 2024 |
| Floppy infant | 1 | Dec 28, 2021 |
| Focal segmental glomerulosclerosis | 1 | Mar 6, 2026 |
| Focal segmental glomerulosclerosis 1 | 1 | Apr 20, 2020 |
| Focal segmental glomerulosclerosis 2 | 3 | Apr 8, 2025 |
| Focal segmental glomerulosclerosis 5 | 1 | Apr 20, 2020 |
| Focal segmental glomerulosclerosis 6 | 1 | Oct 12, 2020 |
| Focal segmental glomerulosclerosis 7 | 2 | Apr 20, 2020 |
| Focal segmental glomerulosclerosis and neurodevelopmental syndrome | 2 | Mar 2, 2022 |
| Focal sensory seizure with somatosensory features | 1 | Sep 29, 2021 |
| Focal-onset seizure | 5 | Apr 14, 2023 |
| Fowler syndrome | 1 | Jun 4, 2025 |
| Fragile X syndrome | 1 | Oct 2, 2024 |
| Frank-Ter Haar syndrome | 1 | Sep 29, 2021 |
| Frontometaphyseal dysplasia 1 | 1 | Oct 2, 2024 |
| Frontotemporal dementia | 1 | Jul 8, 2025 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 1 | Nov 23, 2021 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | 3 | Oct 12, 2020 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 1 | Apr 20, 2020 |
| Fucosidosis | 1 | Oct 8, 2020 |
| Fumarase deficiency | 4 | Mar 6, 2026 |
| GABBR1-associated neurodevelopmental disorder | 1 | Aug 16, 2023 |
| GIGYF1-associated disorder | 1 | Feb 2, 2024 |
| GNE myopathy | 1 | Oct 12, 2020 |
| GRID1-associated neurodevelopmental disorder | 32 | May 10, 2023 |
| GRN-related frontotemporal lobar degeneration with Tdp43 inclusions | 4 | Oct 10, 2025 |
| Gabriele de Vries syndrome | 1 | Nov 1, 2023 |
| Galactosylceramide beta-galactosidase deficiency | 6 | Mar 6, 2026 |
| Gastrointestinal defects and immunodeficiency syndrome 1 | 2 | May 17, 2023 |
| Gastrointestinal stromal tumor | 2 | Oct 10, 2025 |
| Gaucher disease type I | 2 | Dec 8, 2023 |
| Gaze palsy, familial horizontal, with progressive scoliosis 1 | 19 | Feb 5, 2021 |
| Geleophysic dysplasia 3 | 2 | Mar 4, 2025 |
| Generalized dominant dystrophic epidermolysis bullosa | 1 | Apr 20, 2020 |
| Generalized epilepsy with febrile seizures plus, type 1 | 6 | Mar 6, 2026 |
| Generalized epilepsy with febrile seizures plus, type 10 | 3 | Jun 4, 2025 |
| Generalized epilepsy with febrile seizures plus, type 12 | 2 | Mar 4, 2025 |
| Generalized epilepsy with febrile seizures plus, type 2 | 36 | Mar 6, 2026 |
| Generalized epilepsy with febrile seizures plus, type 9 | 5 | Oct 2, 2024 |
| Generalized epilepsy-paroxysmal dyskinesia syndrome | 3 | Apr 20, 2020 |
| Generalized hypopigmentation | 1 | Feb 10, 2022 |
| Generalized juvenile polyposis/juvenile polyposis coli | 1 | Apr 20, 2020 |
| Generalized non-motor (absence) seizure | 1 | Jun 3, 2022 |
| Generalized-onset seizure | 4 | Apr 14, 2023 |
| Gilbert syndrome | 2 | Oct 2, 2024 |
| Gingival fibromatosis-hypertrichosis syndrome | 1 | Oct 12, 2020 |
| Glaucoma 3A | 3 | Jan 31, 2022 |
| Global developmental delay | 15 | Apr 14, 2023 |
| Global developmental delay with or without impaired intellectual development | 25 | Oct 2, 2024 |
| Global developmental delay with speech and behavioral abnormalities | 3 | Oct 10, 2025 |
| Glomerulopathy with fibronectin deposits 2 | 1 | Apr 20, 2020 |
| Glutaric aciduria, type 1 | 2 | Oct 8, 2020 |
| Glycine encephalopathy | 3 | Oct 12, 2020 |
| Glycogen storage disease IXa1 | 3 | Nov 1, 2023 |
| Glycogen storage disease IXb | 1 | Oct 12, 2020 |
| Glycogen storage disease IXd | 1 | Oct 12, 2020 |
| Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2 | Oct 12, 2020 |
| Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | 1 | Mar 4, 2025 |
| Glycogen storage disease type III | 2 | Sep 23, 2021 |
| Glycogen storage disease, type II | 4 | Jun 4, 2025 |
| Glycogen storage disease, type V | 1 | Dec 5, 2025 |
| Glycogen storage disease, type VI | 1 | Oct 12, 2020 |
| Glycosylphosphatidylinositol biosynthesis defect 15 | 2 | Nov 23, 2021 |
| Glycosylphosphatidylinositol biosynthesis defect 16 | 1 | Oct 12, 2020 |
| Gnb5-related intellectual disability-cardiac arrhythmia syndrome | 1 | Oct 12, 2020 |
| Gordon syndrome | 1 | Apr 20, 2020 |
| Gorlin syndrome | 13 | Feb 2, 2024 |
| Gray platelet syndrome | 2 | Nov 14, 2025 |
| Griscelli syndrome type 1 | 1 | Nov 1, 2023 |
| Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome | 2 | Apr 5, 2024 |
| Growth delay | 1 | Dec 28, 2021 |
| Growth delay due to insulin-like growth factor I resistance | 11 | Mar 6, 2026 |
| Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | 1 | Aug 16, 2023 |
| Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | 1 | Oct 2, 2024 |
| HECTD1-associated neurodevelopmental disorder | 1 | Jul 8, 2025 |
| HMGB1-associated disorder | 1 | Dec 8, 2023 |
| Hajdu-Cheney syndrome | 1 | Apr 20, 2020 |
| Hao-Fountain syndrome | 1 | Dec 8, 2023 |
| Harel-Yoon syndrome | 1 | Oct 2, 2024 |
| Hartsfield-Bixler-Demyer syndrome | 1 | Oct 12, 2020 |
| Hawkinsinuria | 1 | Oct 2, 2024 |
| Hearing impairment | 1 | Sep 29, 2022 |
| Hearing loss, X-linked 4 | 1 | Apr 20, 2020 |
| Hearing loss, X-linked 6 | 1 | Oct 12, 2020 |
| Hearing loss, autosomal dominant 37 | 1 | Sep 23, 2021 |
| Hearing loss, autosomal dominant 73 | 2 | Sep 23, 2021 |
| Hearing loss, autosomal recessive 111 | 1 | Sep 16, 2025 |
| Heart, malformation of | 4 | Jan 15, 2021 |
| Hecht syndrome | 1 | Oct 12, 2020 |
| Heimler syndrome 1 | 1 | Oct 12, 2020 |
| Heimler syndrome 2 | 1 | Oct 12, 2020 |
| Hematuria, benign familial, 1 | 1 | Jun 4, 2025 |
| Hemochromatosis type 1 | 3 | Aug 8, 2025 |
| Hemolytic anemia due to hexokinase deficiency | 2 | Oct 2, 2024 |
| Hemolytic uremic syndrome, atypical, susceptibility to, 1 | 2 | Jun 3, 2022 |
| Hemophagocytic lymphohistiocytosis, familial, 6 | 1 | Mar 1, 2024 |
| Hereditary acrodermatitis enteropathica | 1 | Apr 20, 2020 |
| Hereditary angioedema type 1 | 8 | Mar 6, 2026 |
| Hereditary antithrombin deficiency | 3 | Mar 4, 2025 |
| Hereditary cerebral amyloid angiopathy, Icelandic type | 2 | Apr 8, 2025 |
| Hereditary cryohydrocytosis with reduced stomatin | 1 | Oct 12, 2020 |
| Hereditary diffuse gastric adenocarcinoma | 5 | Jan 10, 2025 |
| Hereditary diffuse leukoencephalopathy with spheroids | 8 | Jan 31, 2022 |
| Hereditary episodic ataxia | 1 | Oct 12, 2020 |
| Hereditary factor VIII deficiency disease | 1 | Apr 8, 2025 |
| Hereditary insensitivity to pain with anhidrosis | 2 | Aug 16, 2023 |
| Hereditary leiomyomatosis and renal cell cancer | 1 | Oct 2, 2024 |
| Hereditary liability to pressure palsies | 1 | Sep 22, 2023 |
| Hereditary nonpolyposis colorectal neoplasms | 1 | Sep 22, 2023 |
| Hereditary pancreatitis | 9 | Sep 16, 2025 |
| Hereditary spastic paraplegia 11 | 5 | Dec 12, 2024 |
| Hereditary spastic paraplegia 15 | 1 | Oct 12, 2020 |
| Hereditary spastic paraplegia 28 | 1 | Jun 4, 2025 |
| Hereditary spastic paraplegia 30 | 1 | Aug 16, 2023 |
| Hereditary spastic paraplegia 31 | 1 | Apr 20, 2020 |
| Hereditary spastic paraplegia 35 | 1 | Nov 1, 2023 |
| Hereditary spastic paraplegia 3A | 1 | Mar 4, 2025 |
| Hereditary spastic paraplegia 4 | 6 | Mar 6, 2026 |
| Hereditary spastic paraplegia 43 | 1 | Oct 12, 2020 |
| Hereditary spastic paraplegia 47 | 3 | Jan 10, 2025 |
| Hereditary spastic paraplegia 49 | 17 | Feb 2, 2021 |
| Hereditary spastic paraplegia 50 | 1 | Oct 8, 2020 |
| Hereditary spastic paraplegia 52 | 3 | Aug 8, 2025 |
| Hereditary spastic paraplegia 54 | 1 | Oct 12, 2020 |
| Hereditary spastic paraplegia 55 | 1 | Oct 8, 2020 |
| Hereditary spastic paraplegia 5A | 1 | Apr 20, 2020 |
| Hereditary spastic paraplegia 6 | 1 | Oct 12, 2020 |
| Hereditary spastic paraplegia 7 | 7 | Sep 16, 2025 |
| Hereditary spastic paraplegia 73 | 1 | Oct 12, 2020 |
| Hereditary spastic paraplegia 9A | 1 | Apr 20, 2020 |
| Hereditary spherocytosis type 1 | 3 | Feb 2, 2024 |
| Hereditary spherocytosis type 2 | 2 | Mar 4, 2025 |
| Hereditary spherocytosis type 4 | 2 | Oct 10, 2025 |
| Hermansky-Pudlak syndrome 1 | 1 | Oct 12, 2020 |
| Heterotaxy, visceral, 1, X-linked | 2 | Jul 8, 2025 |
| Heterotaxy, visceral, 12, autosomal | 2 | Dec 19, 2022 |
| Heterotaxy, visceral, 8, autosomal | 2 | Oct 12, 2020 |
| Heterotopia, periventricular, X-linked dominant | 5 | Jan 10, 2025 |
| Hidrotic ectodermal dysplasia syndrome | 1 | Apr 20, 2020 |
| High density lipoprotein cholesterol level quantitative trait locus 12 | 1 | Dec 19, 2022 |
| High myopia | 1 | Feb 10, 2022 |
| High palate | 1 | Jan 31, 2022 |
| Histiocytic medullary reticulosis | 2 | Mar 6, 2026 |
| Holoprosencephaly 13, X-linked | 2 | Mar 6, 2026 |
| Holoprosencephaly 2 | 2 | Mar 4, 2025 |
| Holoprosencephaly 3 | 3 | Oct 12, 2020 |
| Holoprosencephaly 5 | 1 | Nov 23, 2021 |
| Holoprosencephaly 9 | 1 | Dec 12, 2024 |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 2 | Oct 8, 2020 |
| Houge-Janssens syndrome 1 | 4 | Jan 6, 2026 |
| Houge-Janssens syndrome 2 | 6 | Feb 7, 2023 |
| Houge-Janssens syndrome 3 | 1 | Dec 12, 2024 |
| Houge-Janssens syndrome 4 | 1 | Jun 4, 2025 |
| Huntington disease | 2 | Oct 12, 2020 |
| Huntington disease-like 2 | 2 | Oct 2, 2024 |
| Hurler syndrome | 1 | Oct 12, 2020 |
| Hutchinson-Gilford syndrome | 1 | Jul 22, 2021 |
| Hydrocephalus, congenital, 5, susceptibility to | 1 | Oct 2, 2024 |
| Hydrops fetalis | 2 | Dec 28, 2021 |
| Hyper-IgE recurrent infection syndrome 1, autosomal dominant | 5 | Sep 16, 2025 |
| Hyper-IgM syndrome type 1 | 1 | Apr 20, 2020 |
| Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | 1 | Mar 6, 2026 |
| Hypercalcemia, infantile, 1 | 1 | Dec 12, 2024 |
| Hypercalcemia, infantile, 2 | 6 | Mar 4, 2025 |
| Hypercholesterolemia | 3 | Nov 23, 2021 |
| Hypercholesterolemia, autosomal dominant, 3 | 7 | Jul 8, 2025 |
| Hypercholesterolemia, autosomal dominant, type B | 24 | Mar 6, 2026 |
| Hypercholesterolemia, familial, 1 | 91 | Mar 6, 2026 |
| Hyperekplexia 1 | 2 | Mar 6, 2026 |
| Hyperglycinuria | 1 | Oct 12, 2020 |
| Hyperimmunoglobulin D with periodic fever | 2 | Mar 4, 2025 |
| Hyperinsulinemic hypoglycemia, familial, 1 | 6 | Dec 5, 2025 |
| Hyperinsulinism-hyperammonemia syndrome | 1 | Oct 12, 2020 |
| Hyperkalemic periodic paralysis | 1 | Apr 20, 2020 |
| Hyperlipidemia | 1 | Jan 31, 2022 |
| Hyperlipidemia, familial combined, LPL related | 5 | Oct 10, 2025 |
| Hyperlipoproteinemia | 1 | Dec 28, 2021 |
| Hyperlipoproteinemia, type 1D | 3 | Oct 2, 2024 |
| Hypermetropia | 1 | Feb 7, 2023 |
| Hyperopia, high | 1 | Oct 4, 2021 |
| Hyperoxaluria | 7 | May 15, 2023 |
| Hyperparathyroidism 1 | 1 | Feb 2, 2024 |
| Hyperparathyroidism 2 with jaw tumors | 1 | Feb 2, 2024 |
| Hyperphosphatasia with intellectual disability syndrome 1 | 2 | Dec 12, 2024 |
| Hyperphosphatasia with intellectual disability syndrome 3 | 3 | Feb 6, 2024 |
| Hypertelorism | 2 | Sep 29, 2022 |
| Hypertensive disorder | 1 | Jan 31, 2022 |
| Hypertrichotic osteochondrodysplasia Cantu type | 1 | Aug 8, 2025 |
| Hypertriglyceridemia 1 | 1 | Oct 12, 2020 |
| Hypertriglyceridemia 2 | 2 | Mar 6, 2026 |
| Hypertrophic cardiomyopathy | 3 | Dec 28, 2021 |
| Hypertrophic cardiomyopathy 1 | 17 | Jan 6, 2026 |
| Hypertrophic cardiomyopathy 10 | 3 | Oct 2, 2024 |
| Hypertrophic cardiomyopathy 12 | 1 | Mar 6, 2026 |
| Hypertrophic cardiomyopathy 2 | 1 | Feb 2, 2024 |
| Hypertrophic cardiomyopathy 20 | 1 | Apr 20, 2020 |
| Hypertrophic cardiomyopathy 25 | 1 | Apr 20, 2020 |
| Hypertrophic cardiomyopathy 26 | 4 | Aug 8, 2025 |
| Hypertrophic cardiomyopathy 3 | 1 | Oct 12, 2020 |
| Hypertrophic cardiomyopathy 4 | 25 | Mar 6, 2026 |
| Hypertrophic cardiomyopathy 6 | 2 | Apr 8, 2025 |
| Hypertrophic cardiomyopathy 7 | 2 | Dec 5, 2025 |
| Hypertrophic cardiomyopathy 8 | 1 | Dec 12, 2024 |
| Hypertrophic cardiomyopathy 9 | 9 | Sep 23, 2021 |
| Hypochondroplasia | 3 | Feb 6, 2024 |
| Hypogonadotropic hypogonadism 1 with or without anosmia | 2 | Apr 20, 2020 |
| Hypogonadotropic hypogonadism 16 with or without anosmia | 1 | Oct 12, 2020 |
| Hypogonadotropic hypogonadism 2 with or without anosmia | 1 | Apr 20, 2020 |
| Hypogonadotropic hypogonadism 3 with or without anosmia | 1 | Sep 29, 2022 |
| Hypogonadotropic hypogonadism 6 with or without anosmia | 1 | Oct 12, 2020 |
| Hypogonadotropic hypogonadism 7 with or without anosmia | 1 | Apr 20, 2020 |
| Hypogonadotropic hypogonadism 9 with or without anosmia | 1 | Apr 20, 2020 |
| Hypohidrotic X-linked ectodermal dysplasia | 4 | Apr 5, 2024 |
| Hypokalemic periodic paralysis, type 1 | 7 | Oct 12, 2020 |
| Hypomagnesemia, seizures, and intellectual disability 1 | 1 | Mar 2, 2022 |
| Hypomyelinating leukodystrophy 11 | 1 | Oct 12, 2020 |
| Hypomyelinating leukodystrophy 12 | 1 | Apr 20, 2020 |
| Hypomyelinating leukodystrophy 4 | 1 | Apr 20, 2020 |
| Hypomyelinating leukodystrophy 6 | 2 | Jan 31, 2022 |
| Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | 2 | Oct 12, 2020 |
| Hypomyelination with brain stem and spinal cord involvement and leg spasticity | 1 | Oct 12, 2020 |
| Hypophosphatemic nephrolithiasis/osteoporosis 1 | 1 | Apr 14, 2023 |
| Hypopigmentation-punctate palmoplantar keratoderma syndrome | 1 | Oct 12, 2020 |
| Hypopituitarism | 1 | Jan 31, 2022 |
| Hypoplastic enamel-onycholysis-hypohidrosis syndrome | 1 | Oct 12, 2020 |
| Hypospadias 2, X-linked | 1 | Oct 12, 2020 |
| Hypotonia | 3 | Jul 22, 2022 |
| Hypotonia, ataxia, and delayed development syndrome | 8 | Mar 6, 2026 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 1 | Mar 4, 2025 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 2 | Oct 12, 2020 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 1 | Oct 8, 2020 |
| IMPDH2-associated neurodevelopmental disorder | 1 | Oct 2, 2024 |
| INTS6-associated neurodevelopmental disorder | 1 | Mar 4, 2025 |
| ITSN1-associated neurodevelopmental disorder | 1 | Nov 14, 2025 |
| Ichthyosis bullosa of Siemens | 1 | Jun 4, 2025 |
| Ichthyosis vulgaris | 6 | Mar 6, 2026 |
| Ichthyosis, congenital, autosomal recessive 13 | 2 | Feb 7, 2023 |
| Ichthyosis, hystrix-like, with hearing loss | 1 | Oct 12, 2020 |
| Idiopathic basal ganglia calcification 1 | 1 | Jun 3, 2022 |
| Idiopathic generalized epilepsy | 1 | Apr 20, 2020 |
| Imagawa-Matsumoto syndrome | 1 | Dec 12, 2024 |
| Immune deficiency, familial variable | 2 | Oct 2, 2024 |
| Immunodeficiency 11b with atopic dermatitis | 2 | Oct 10, 2025 |
| Immunodeficiency 14 | 1 | Sep 23, 2021 |
| Immunodeficiency 19 | 1 | Aug 16, 2023 |
| Immunodeficiency 32B | 1 | Sep 23, 2021 |
| Immunodeficiency 36 with lymphoproliferation | 1 | Jul 8, 2025 |
| Immunodeficiency 45 | 1 | Dec 12, 2024 |
| Immunodeficiency 64 | 1 | Oct 12, 2020 |
| Immunodeficiency 67 | 2 | Sep 23, 2021 |
| Immunodeficiency 75 | 2 | Dec 12, 2024 |
| Immunodeficiency 91 and hyperinflammation | 1 | Apr 8, 2025 |
| Immunodeficiency, common variable, 10 | 2 | Jun 4, 2025 |
| Immunodeficiency, common variable, 12 | 6 | Jun 4, 2025 |
| Immunodeficiency, common variable, 2 | 9 | Sep 16, 2025 |
| Imperforate anus | 1 | Jan 31, 2022 |
| Impulsivity | 1 | Dec 28, 2021 |
| Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | 1 | Apr 29, 2022 |
| Incontinentia pigmenti syndrome | 3 | Jan 6, 2026 |
| Increased circulating aldosterone concentration | 1 | Oct 12, 2020 |
| Increased nuchal translucency | 1 | Jan 15, 2021 |
| Increased susceptibility to fractures | 1 | Jun 3, 2022 |
| Infantile cerebellar-retinal degeneration | 3 | Jan 6, 2026 |
| Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | 1 | Jun 4, 2025 |
| Infantile convulsions and choreoathetosis | 3 | Oct 2, 2024 |
| Infantile cortical hyperostosis | 2 | Oct 12, 2020 |
| Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | 2 | Mar 4, 2025 |
| Infantile liver failure syndrome 1 | 1 | Nov 14, 2025 |
| Infantile neuroaxonal dystrophy | 1 | Jan 31, 2022 |
| Inherited Creutzfeldt-Jakob disease | 1 | Oct 12, 2020 |
| Inherited obesity | 3 | Dec 5, 2025 |
| Insulin-resistant diabetes mellitus AND acanthosis nigricans | 1 | Apr 20, 2020 |
| Intellectual developmental disorder 60 with seizures | 1 | Sep 23, 2021 |
| Intellectual developmental disorder 61 | 2 | Nov 14, 2025 |
| Intellectual developmental disorder 62 | 50 | Jan 6, 2026 |
| Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | 1 | Nov 23, 2021 |
| Intellectual developmental disorder with autism and macrocephaly | 6 | Dec 12, 2024 |
| Intellectual developmental disorder with autism and speech delay | 2 | Oct 2, 2024 |
| Intellectual developmental disorder with autistic features and language delay, with or without seizures | 7 | Dec 5, 2025 |
| Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures | 2 | Aug 16, 2023 |
| Intellectual developmental disorder with cardiac defects and dysmorphic facies | 1 | Mar 7, 2021 |
| Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 49 | Apr 8, 2025 |
| Intellectual developmental disorder with dysmorphic facies and ptosis | 2 | Jan 6, 2026 |
| Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 5 | Aug 8, 2025 |
| Intellectual developmental disorder with hypotonia and behavioral abnormalities | 2 | Mar 2, 2022 |
| Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | 2 | Mar 1, 2024 |
| Intellectual developmental disorder with impaired language and dysmorphic facies | 1 | Sep 4, 2023 |
| Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism | 2 | Mar 4, 2025 |
| Intellectual developmental disorder with macrocephaly, seizures, and speech delay | 5 | Dec 8, 2023 |
| Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism | 3 | Jan 17, 2023 |
| Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | 4 | Sep 16, 2025 |
| Intellectual developmental disorder with poor growth and with or without seizures or ataxia | 1 | Oct 10, 2025 |
| Intellectual developmental disorder with seizures and language delay | 11 | Mar 6, 2026 |
| Intellectual developmental disorder with severe speech and ambulation defects | 1 | Oct 4, 2021 |
| Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | 7 | Nov 14, 2025 |
| Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities | 1 | Dec 12, 2024 |
| Intellectual developmental disorder, X-linked 108 | 1 | Jun 4, 2025 |
| Intellectual developmental disorder, X-linked 111 | 1 | Dec 8, 2023 |
| Intellectual developmental disorder, autosomal dominant 64 | 7 | Mar 6, 2026 |
| Intellectual developmental disorder, autosomal dominant 65 | 4 | Apr 5, 2024 |
| Intellectual developmental disorder, autosomal dominant 66 | 7 | Aug 8, 2025 |
| Intellectual developmental disorder, autosomal dominant 67 | 2 | May 5, 2023 |
| Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities | 2 | Mar 6, 2026 |
| Intellectual developmental disorder, autosomal dominant 72 | 5 | Oct 2, 2024 |
| Intellectual developmental disorder, autosomal dominant 73 | 2 | Mar 6, 2026 |
| Intellectual developmental disorder, autosomal dominant 76 | 2 | Mar 6, 2026 |
| Intellectual developmental disorder, autosomal recessive 67 | 1 | Dec 5, 2025 |
| Intellectual developmental disorder, autosomal recessive 68 | 2 | Sep 23, 2021 |
| Intellectual developmental disorder, autosomal recessive 70 | 1 | Oct 2, 2024 |
| Intellectual developmental disorder, autosomal recessive 71 | 1 | Nov 1, 2023 |
| Intellectual developmental disorder, autosomal recessive 78 | 1 | Mar 6, 2026 |
| Intellectual developmental disorder, autosomal recessive 81 | 2 | Oct 10, 2025 |
| Intellectual disability | 124 | Apr 14, 2023 |
| Intellectual disability, X-linked 1 | 13 | Dec 5, 2025 |
| Intellectual disability, X-linked 102 | 16 | Mar 6, 2026 |
| Intellectual disability, X-linked 103 | 1 | Apr 20, 2020 |
| Intellectual disability, X-linked 104 | 2 | Oct 12, 2020 |
| Intellectual disability, X-linked 106 | 2 | Apr 8, 2025 |
| Intellectual disability, X-linked 107 | 1 | Sep 22, 2023 |
| Intellectual disability, X-linked 19 | 2 | Jul 22, 2022 |
| Intellectual disability, X-linked 21 | 3 | Dec 5, 2025 |
| Intellectual disability, X-linked 30 | 2 | Oct 2, 2024 |
| Intellectual disability, X-linked 41 | 4 | Mar 4, 2025 |
| Intellectual disability, X-linked 49 | 6 | Oct 10, 2025 |
| Intellectual disability, X-linked 61 | 1 | Mar 4, 2025 |
| Intellectual disability, X-linked 63 | 4 | Oct 2, 2024 |
| Intellectual disability, X-linked 72 | 1 | Jun 4, 2025 |
| Intellectual disability, X-linked 81 | 1 | Mar 4, 2025 |
| Intellectual disability, X-linked 9 | 1 | Oct 2, 2024 |
| Intellectual disability, X-linked 93 | 2 | Oct 2, 2024 |
| Intellectual disability, X-linked 96 | 1 | Oct 12, 2020 |
| Intellectual disability, X-linked 97 | 1 | Apr 20, 2020 |
| Intellectual disability, X-linked 99 | 1 | Oct 12, 2020 |
| Intellectual disability, X-linked 99, syndromic, female-restricted | 1 | Apr 20, 2020 |
| Intellectual disability, X-linked syndromic, Turner type | 11 | Dec 5, 2025 |
| Intellectual disability, X-linked, syndromic 33 | 2 | Oct 2, 2024 |
| Intellectual disability, X-linked, syndromic, Bain type | 1 | Oct 8, 2020 |
| Intellectual disability, X-linked, syndromic, Houge type | 6 | Mar 4, 2025 |
| Intellectual disability, autosomal dominant 1 | 5 | Mar 6, 2026 |
| Intellectual disability, autosomal dominant 13 | 23 | Jul 8, 2025 |
| Intellectual disability, autosomal dominant 14 | 8 | Oct 2, 2024 |
| Intellectual disability, autosomal dominant 16 | 7 | Aug 8, 2025 |
| Intellectual disability, autosomal dominant 22 | 3 | Nov 14, 2025 |
| Intellectual disability, autosomal dominant 24 | 5 | Feb 2, 2024 |
| Intellectual disability, autosomal dominant 29 | 5 | Jul 8, 2025 |
| Intellectual disability, autosomal dominant 30 | 16 | Dec 5, 2025 |
| Intellectual disability, autosomal dominant 33 | 2 | Nov 1, 2023 |
| Intellectual disability, autosomal dominant 34 | 1 | Apr 20, 2020 |
| Intellectual disability, autosomal dominant 38 | 2 | Oct 10, 2025 |
| Intellectual disability, autosomal dominant 39 | 8 | Dec 5, 2025 |
| Intellectual disability, autosomal dominant 40 | 1 | Mar 6, 2026 |
| Intellectual disability, autosomal dominant 41 | 4 | Mar 6, 2026 |
| Intellectual disability, autosomal dominant 42 | 8 | Dec 5, 2025 |
| Intellectual disability, autosomal dominant 43 | 4 | Mar 4, 2025 |
| Intellectual disability, autosomal dominant 45 | 6 | Jun 4, 2025 |
| Intellectual disability, autosomal dominant 46 | 2 | Aug 16, 2023 |
| Intellectual disability, autosomal dominant 47 | 1 | Oct 12, 2020 |
| Intellectual disability, autosomal dominant 5 | 24 | Mar 6, 2026 |
| Intellectual disability, autosomal dominant 50 | 9 | Sep 16, 2025 |
| Intellectual disability, autosomal dominant 51 | 1 | Jun 4, 2025 |
| Intellectual disability, autosomal dominant 52 | 3 | Dec 5, 2025 |
| Intellectual disability, autosomal dominant 53 | 2 | Mar 6, 2026 |
| Intellectual disability, autosomal dominant 54 | 3 | Jun 4, 2025 |
| Intellectual disability, autosomal dominant 55, with seizures | 5 | Mar 6, 2026 |
| Intellectual disability, autosomal dominant 56 | 6 | Apr 8, 2025 |
| Intellectual disability, autosomal dominant 57 | 8 | Mar 6, 2026 |
| Intellectual disability, autosomal dominant 58 | 2 | Apr 20, 2020 |
| Intellectual disability, autosomal dominant 6 | 77 | Jul 8, 2025 |
| Intellectual disability, autosomal dominant 9 | 5 | Mar 2, 2022 |
| Intellectual disability, autosomal recessive 13 | 2 | Mar 2, 2022 |
| Intellectual disability, autosomal recessive 18 | 1 | Mar 4, 2025 |
| Intellectual disability, autosomal recessive 2 | 1 | Oct 8, 2020 |
| Intellectual disability, autosomal recessive 24 | 1 | Nov 1, 2023 |
| Intellectual disability, autosomal recessive 27 | 1 | Oct 8, 2020 |
| Intellectual disability, autosomal recessive 3 | 2 | Oct 12, 2020 |
| Intellectual disability, autosomal recessive 42 | 3 | Oct 12, 2020 |
| Intellectual disability, autosomal recessive 46 | 1 | Oct 8, 2020 |
| Intellectual disability, autosomal recessive 53 | 1 | Oct 4, 2021 |
| Intellectual disability, autosomal recessive 57 | 2 | Sep 23, 2021 |
| Intellectual disability, autosomal recessive 60 | 2 | Nov 23, 2021 |
| Intellectual disability, autosomal recessive 61 | 2 | Mar 6, 2026 |
| Intellectual disability, autosomal recessive 65 | 1 | Apr 20, 2020 |
| Intellectual disability, autosomal recessive 66 | 1 | Oct 8, 2020 |
| Intellectual disability-epilepsy-extrapyramidal syndrome | 1 | Sep 23, 2021 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 8 | Jan 6, 2026 |
| Intellectual disability-hypotonia-spasticity-sleep disorder syndrome | 2 | Aug 8, 2025 |
| Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 3 | Dec 5, 2025 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 7 | Sep 16, 2025 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 13 | Mar 6, 2026 |
| Intellectual disability-strabismus syndrome | 1 | Oct 12, 2020 |
| Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency | 1 | Oct 12, 2020 |
| Inversion of nipple | 1 | Feb 7, 2023 |
| Isolated cleft palate | 1 | Jan 31, 2022 |
| Isolated focal cortical dysplasia type II | 2 | Apr 20, 2020 |
| Isolated microphthalmia 5 | 2 | Sep 29, 2021 |
| Isolated microphthalmia 8 | 1 | Sep 16, 2025 |
| Isolated thyroid-stimulating hormone deficiency | 1 | Apr 20, 2020 |
| Isovaleryl-CoA dehydrogenase deficiency | 2 | Oct 12, 2020 |
| Jalili syndrome | 2 | Oct 28, 2022 |
| Jervell and Lange-Nielsen syndrome 1 | 2 | Oct 2, 2024 |
| Johanson-Blizzard syndrome | 1 | Oct 12, 2020 |
| Joubert syndrome 1 | 2 | Mar 4, 2025 |
| Joubert syndrome 10 | 1 | Oct 12, 2020 |
| Joubert syndrome 17 | 5 | Sep 16, 2025 |
| Joubert syndrome 18 | 2 | Apr 5, 2024 |
| Joubert syndrome 21 | 1 | Oct 12, 2020 |
| Joubert syndrome 23 | 4 | Jun 4, 2025 |
| Joubert syndrome 3 | 3 | Aug 16, 2023 |
| Joubert syndrome 5 | 6 | Oct 2, 2024 |
| Joubert syndrome 6 | 3 | Nov 23, 2021 |
| Joubert syndrome 9 | 2 | Sep 23, 2021 |
| Joubert syndrome with renal defect | 1 | Oct 12, 2020 |
| Juvenile polyposis syndrome | 1 | Nov 1, 2023 |
| Juvenile retinoschisis | 5 | Jan 6, 2026 |
| KBG syndrome | 23 | Mar 6, 2026 |
| KCNA3-associated developmental and epileptic encephalopathy | 13 | Apr 10, 2024 |
| KCNA3-associated disorder | 2 | Oct 2, 2024 |
| KCNA6-associated epileptic encephalopathy | 1 | Dec 5, 2025 |
| KCNB2-associated neurodevelopmental disorder | 3 | Jan 6, 2026 |
| KCND1-associated seizure disorder | 1 | Jun 4, 2025 |
| KDM2A-related neurodevelopmental disorder | 18 | Apr 9, 2025 |
| KIF21B-associated neurodevelopmental disorder | 1 | Oct 2, 2024 |
| Kabuki syndrome 1 | 16 | Mar 6, 2026 |
| Kabuki syndrome 2 | 4 | Mar 4, 2025 |
| Karayol-Borroto-Haghshenas neurodevelopmental syndrome | 2 | Jun 4, 2025 |
| Kell blood group system | 1 | Aug 16, 2023 |
| Keppen-Lubinsky syndrome | 2 | Oct 10, 2025 |
| Keratoderma-ichthyosis-deafness syndrome, autosomal recessive | 2 | May 17, 2023 |
| Keratosis follicularis | 1 | Nov 1, 2023 |
| Ketoacidosis due to monocarboxylate transporter-1 deficiency | 1 | Oct 12, 2020 |
| Kleefstra syndrome 1 | 13 | Jun 4, 2025 |
| Kleefstra syndrome 2 | 12 | Mar 6, 2026 |
| Klippel-Feil syndrome 1, autosomal dominant | 1 | Apr 20, 2020 |
| Klippel-Feil syndrome 3, autosomal dominant | 1 | Oct 12, 2020 |
| Kniest dysplasia | 1 | Apr 20, 2020 |
| Knobloch syndrome | 4 | Sep 29, 2021 |
| Kohlschutter-Tonz syndrome-like | 3 | Dec 12, 2024 |
| Koolen-de Vries syndrome | 3 | Feb 2, 2024 |
| Kufor-Rakeb syndrome | 2 | Oct 12, 2020 |
| Kury-Isidor syndrome | 2 | Mar 6, 2026 |
| L-2-hydroxyglutaric aciduria | 2 | Sep 23, 2021 |
| LEOPARD syndrome 1 | 5 | Mar 6, 2026 |
| LHX2-associated neurodevelopmental disorder | 2 | Mar 6, 2026 |
| LRRC7-associated neurodevelopmental disorder | 1 | Mar 4, 2025 |
| LRRC7-associated obesity and neurodevelopmental disorder | 2 | Jun 4, 2025 |
| LZTR1-associated CaLMs-syndrome | 1 | Sep 16, 2025 |
| LZTR1-related schwannomatosis | 5 | Sep 16, 2025 |
| Lactic aciduria due to D-lactic acid | 2 | Jan 10, 2025 |
| Lafora disease | 1 | Oct 12, 2020 |
| Lamb-Shaffer syndrome | 7 | Apr 14, 2023 |
| Lambdoidal craniosynostosis | 3 | Jul 8, 2025 |
| Landau-Kleffner syndrome | 106 | Sep 16, 2025 |
| Large for gestational age | 3 | Apr 29, 2022 |
| Large forehead | 1 | Sep 29, 2022 |
| Larsen-like syndrome, B3GAT3 type | 2 | Sep 4, 2023 |
| Late-onset retinal degeneration | 2 | Oct 2, 2024 |
| Leber congenital amaurosis 1 | 2 | Apr 14, 2023 |
| Leber congenital amaurosis 2 | 2 | Apr 29, 2022 |
| Leber congenital amaurosis 4 | 2 | Oct 2, 2024 |
| Leber congenital amaurosis 8 | 1 | Oct 12, 2020 |
| Leber optic atrophy | 2 | Nov 14, 2025 |
| Left ventricular noncompaction 10 | 9 | Feb 2, 2024 |
| Legius syndrome | 1 | Mar 1, 2024 |
| Leigh syndrome | 4 | Mar 4, 2025 |
| Lenz-Majewski hyperostosis syndrome | 2 | Jan 10, 2025 |
| Lessel-Kreienkamp syndrome | 2 | Mar 4, 2025 |
| Lethal congenital contracture syndrome 11 | 1 | Oct 2, 2024 |
| Lethal congenital contracture syndrome 3 | 1 | Oct 2, 2024 |
| Lethal tight skin contracture syndrome | 2 | Sep 29, 2021 |
| Leucine-induced hypoglycemia | 1 | Apr 20, 2020 |
| Leukodystrophy and acquired microcephaly with or without dystonia; | 1 | Oct 12, 2020 |
| Leukodystrophy, hypomyelinating, 14 | 1 | Nov 1, 2023 |
| Leukodystrophy, hypomyelinating, 15 | 2 | Dec 8, 2023 |
| Leukodystrophy, hypomyelinating, 18 | 1 | Oct 8, 2020 |
| Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism | 3 | Mar 4, 2025 |
| Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | 1 | Oct 8, 2020 |
| Leukoencephalopathy with calcifications and cysts | 4 | Nov 14, 2025 |
| Leukoencephalopathy with vanishing white matter 5 | 2 | Oct 2, 2024 |
| Leukoencephalopathy, diffuse hereditary, with spheroids 1 | 4 | Jul 8, 2025 |
| Leukoencephalopathy, progressive, with ovarian failure | 5 | Oct 2, 2024 |
| Li-Fraumeni syndrome 1 | 22 | Mar 6, 2026 |
| Li-Ghorbani-Weisz-Hubshman syndrome | 1 | Apr 29, 2022 |
| Liang-Wang syndrome | 2 | Mar 6, 2026 |
| Limb undergrowth | 1 | Sep 29, 2022 |
| Lipoprotein glomerulopathy | 1 | Oct 12, 2020 |
| Lissencephaly 10 | 3 | Oct 10, 2025 |
| Lissencephaly 8 | 1 | Mar 7, 2021 |
| Lissencephaly 9 with complex brainstem malformation | 2 | Oct 12, 2020 |
| Lissencephaly due to LIS1 mutation | 10 | Jan 6, 2026 |
| Lissencephaly due to TUBA1A mutation | 14 | Dec 5, 2025 |
| Lissencephaly type 1 due to doublecortin gene mutation | 11 | Nov 14, 2025 |
| Loeys-Dietz syndrome 1 | 3 | Jul 8, 2025 |
| Loeys-Dietz syndrome 2 | 2 | Oct 2, 2024 |
| Loeys-Dietz syndrome 4 | 2 | Dec 12, 2024 |
| Loeys-Dietz syndrome 6 | 1 | Aug 8, 2025 |
| Long QT syndrome 1 | 19 | Mar 6, 2026 |
| Long QT syndrome 2 | 8 | Mar 6, 2026 |
| Long QT syndrome 3 | 3 | Sep 16, 2025 |
| Long ear | 1 | Apr 14, 2023 |
| Long neck | 1 | Apr 14, 2023 |
| Low phospholipid associated cholelithiasis | 2 | Aug 8, 2025 |
| Lowe syndrome | 1 | Sep 23, 2021 |
| Lower limb spasticity | 1 | Apr 29, 2022 |
| Luo-Schoch-Yamamoto syndrome | 1 | Apr 5, 2024 |
| Luscan-Lumish syndrome | 3 | Mar 6, 2026 |
| Lynch syndrome 1 | 17 | Mar 4, 2025 |
| Lynch syndrome 4 | 15 | Mar 6, 2026 |
| Lynch syndrome 5 | 27 | Mar 6, 2026 |
| Lysinuric protein intolerance | 1 | Dec 8, 2023 |
| Lysosomal acid lipase deficiency | 1 | Apr 20, 2020 |
| MARK2-associated neurodevelopmental disorder | 1 | Mar 4, 2025 |
| MASA syndrome | 2 | Oct 2, 2024 |
| MELAS syndrome | 5 | Mar 4, 2025 |
| MERRF syndrome | 2 | Dec 5, 2025 |
| MHC class II deficiency | 2 | Apr 20, 2020 |
| MPDU1-congenital disorder of glycosylation | 2 | Mar 4, 2025 |
| MYCBP2-associated disorder | 1 | Feb 2, 2024 |
| MYCBP2-associated neurodevelopmental disorder | 1 | Mar 4, 2025 |
| Macrocephaly | 2 | Feb 7, 2023 |
| Macrocephaly, acquired, with impaired intellectual development | 3 | Oct 12, 2020 |
| Macrocephaly, dysmorphic facies, and psychomotor retardation | 1 | Aug 8, 2025 |
| Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin | 1 | Oct 2, 2024 |
| Macrocephaly-autism syndrome | 3 | Oct 2, 2024 |
| Macrocephaly-developmental delay syndrome | 3 | Dec 5, 2025 |
| Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 4 | Oct 2, 2024 |
| Macroglossia | 1 | Oct 4, 2021 |
| Macroscopic hematuria | 1 | Jan 31, 2022 |
| Macrothrombocytopenia, isolated, 1, autosomal dominant | 1 | Aug 16, 2023 |
| Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | 2 | Oct 2, 2024 |
| Macrotia | 1 | Jan 31, 2022 |
| Macular dystrophy | 3 | Dec 28, 2021 |
| Macular dystrophy with central cone involvement | 1 | Sep 23, 2021 |
| Malan overgrowth syndrome | 4 | Oct 10, 2025 |
| Malignant hyperthermia, susceptibility to, 1 | 30 | Mar 6, 2026 |
| Malignant hyperthermia, susceptibility to, 5 | 4 | Apr 5, 2024 |
| Mandibulofacial dysostosis-microcephaly syndrome | 5 | Oct 2, 2024 |
| Maple syrup urine disease | 2 | Nov 23, 2021 |
| Marfan syndrome | 22 | Jul 8, 2025 |
| Marinesco-Sjögren syndrome | 1 | Oct 12, 2020 |
| Marshall syndrome | 4 | Oct 12, 2020 |
| Marshall-Smith syndrome | 1 | Sep 23, 2021 |
| Maternally-inherited spastic paraplegia | 1 | Dec 8, 2023 |
| Maturity-onset diabetes of the young type 1 | 1 | Oct 10, 2025 |
| Maturity-onset diabetes of the young type 13 | 1 | Oct 28, 2022 |
| Maturity-onset diabetes of the young type 2 | 9 | Mar 6, 2026 |
| Maturity-onset diabetes of the young type 3 | 4 | Mar 6, 2026 |
| Maturity-onset diabetes of the young type 8 | 1 | Jun 4, 2025 |
| Maturity-onset diabetes of the young, type 12 | 1 | Mar 6, 2026 |
| Meckel syndrome, type 10 | 2 | Oct 2, 2024 |
| Meckel syndrome, type 3 | 3 | Oct 12, 2020 |
| Meckel syndrome, type 4 | 1 | Oct 12, 2020 |
| Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | 2 | Dec 12, 2024 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | 1 | Oct 2, 2024 |
| Megalencephalic leukoencephalopathy with subcortical cysts 1 | 1 | Feb 2, 2024 |
| Megalencephaly-capillary malformation-polymicrogyria syndrome | 4 | Oct 2, 2024 |
| Megalencephaly-polydactyly syndrome | 1 | Jul 8, 2025 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 3 | Aug 8, 2025 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | 2 | Apr 14, 2023 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | 2 | Jan 6, 2026 |
| Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 1 | Aug 8, 2025 |
| Meier-Gorlin syndrome 2 | 2 | Sep 16, 2025 |
| Meier-Gorlin syndrome 4 | 1 | Oct 12, 2020 |
| Melanoma-pancreatic cancer syndrome | 1 | Apr 5, 2024 |
| Melnick-Needles syndrome | 3 | Oct 12, 2020 |
| Menke-Hennekam syndrome 1 | 3 | Mar 6, 2026 |
| Menke-Hennekam syndrome 2 | 1 | Mar 6, 2026 |
| Menkes kinky-hair syndrome | 3 | Mar 4, 2025 |
| Merosin deficient congenital muscular dystrophy | 2 | Jul 8, 2025 |
| Metachromatic leukodystrophy | 10 | Apr 8, 2025 |
| Metaphyseal chondrodysplasia, McKusick type | 2 | May 17, 2023 |
| Metaphyseal chondrodysplasia, Schmid type | 2 | Apr 20, 2020 |
| Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome | 1 | Sep 29, 2022 |
| Metatropic dysplasia | 1 | Apr 5, 2024 |
| Methylmalonic acidemia with homocystinuria, type cblJ | 1 | Oct 12, 2020 |
| Methylmalonic acidemia with homocystinuria, type cblX | 2 | Oct 12, 2020 |
| Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 3 | Mar 6, 2026 |
| Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | 3 | Dec 12, 2024 |
| Microcephalic osteodysplastic primordial dwarfism type II | 3 | Dec 28, 2021 |
| Microcephalic primordial dwarfism due to ZNF335 deficiency | 1 | Oct 12, 2020 |
| Microcephalic primordial dwarfism, Alazami type | 4 | Aug 8, 2025 |
| Microcephaly | 22 | Jul 22, 2022 |
| Microcephaly 1, primary, autosomal recessive | 1 | Jan 17, 2023 |
| Microcephaly 18, primary, autosomal dominant | 3 | Oct 2, 2024 |
| Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 7 | Apr 8, 2025 |
| Microcephaly 20, primary, autosomal recessive | 1 | Dec 12, 2024 |
| Microcephaly 26, primary, autosomal dominant | 1 | Jun 4, 2025 |
| Microcephaly 3, primary, autosomal recessive | 1 | Oct 2, 2024 |
| Microcephaly 5, primary, autosomal recessive | 6 | Dec 5, 2025 |
| Microcephaly 7, primary, autosomal recessive | 1 | Oct 12, 2020 |
| Microcephaly and chorioretinopathy 3 | 1 | Oct 12, 2020 |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 5 | Feb 2, 2024 |
| Microcephaly, normal intelligence and immunodeficiency | 1 | Sep 4, 2023 |
| Microcephaly, seizures, and developmental delay | 5 | Dec 11, 2020 |
| Microcephaly, short stature, and impaired glucose metabolism 1 | 1 | Oct 8, 2020 |
| Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | 6 | Mar 2, 2022 |
| Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 20 | Mar 4, 2025 |
| Microphthalmia with brain and digit anomalies | 1 | Apr 5, 2024 |
| Microretrognathia | 1 | Nov 23, 2021 |
| Microtia | 1 | Nov 23, 2021 |
| Migraine | 1 | Oct 12, 2020 |
| Migraine with or without aura, susceptibility to, 1 | 1 | Jul 22, 2022 |
| Migraine, familial hemiplegic, 1 | 8 | Nov 14, 2025 |
| Migraine, familial hemiplegic, 2 | 7 | Oct 2, 2024 |
| Mild expressive language delay | 1 | Feb 7, 2023 |
| Mild global developmental delay | 3 | Apr 14, 2023 |
| Mild intellectual disability | 3 | Feb 7, 2023 |
| Mild microcephaly | 2 | Dec 28, 2021 |
| Mild short stature | 1 | Nov 23, 2021 |
| Mirror movements 1 | 1 | Feb 6, 2024 |
| Mismatch repair cancer syndrome 1 | 7 | Dec 28, 2021 |
| Mismatch repair cancer syndrome 4 | 1 | Oct 2, 2024 |
| Mitochondrial DNA depletion syndrome 11 | 1 | Oct 8, 2020 |
| Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant | 1 | Apr 8, 2025 |
| Mitochondrial DNA depletion syndrome 13 | 2 | Jan 31, 2022 |
| Mitochondrial DNA depletion syndrome 16 (hepatic type) | 1 | Oct 12, 2020 |
| Mitochondrial DNA depletion syndrome 4b | 2 | Sep 29, 2021 |
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 1 | Oct 2, 2024 |
| Mitochondrial DNA-Associated Leigh Syndrome and NARP | 1 | Jul 22, 2022 |
| Mitochondrial complex 2 deficiency, nuclear type 2 | 1 | Feb 2, 2024 |
| Mitochondrial complex I deficiency, nuclear type 30 | 1 | Jun 4, 2025 |
| Mitochondrial complex I deficiency, nuclear type 5 | 2 | Mar 2, 2022 |
| Mitochondrial complex IV deficiency, nuclear type 1 | 2 | Jul 8, 2025 |
| Mitochondrial disease | 2 | Mar 6, 2026 |
| Mitochondrial myopathy-lactic acidosis-deafness syndrome | 1 | Nov 1, 2023 |
| Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | 2 | Mar 6, 2026 |
| Mitral valve prolapse, myxomatous 2 | 1 | Oct 12, 2020 |
| Moderate global developmental delay | 6 | Apr 14, 2023 |
| Monocytopenia with susceptibility to infections | 1 | Oct 12, 2020 |
| Morimoto-Ryu-Malicdan neuromuscular syndrome | 2 | Mar 4, 2025 |
| Mosaic variegated aneuploidy syndrome 1 | 2 | Aug 16, 2023 |
| Motor delay | 3 | Apr 14, 2023 |
| Movement disorder | 6 | Nov 14, 2025 |
| Mowat-Wilson syndrome | 10 | Aug 8, 2025 |
| Moyamoya disease 1 | 1 | Jun 4, 2025 |
| Moyamoya disease with early-onset achalasia | 1 | Oct 12, 2020 |
| Mucocutaneous ulceration, chronic | 1 | Oct 2, 2024 |
| Mucolipidosis type II | 1 | Oct 12, 2020 |
| Mucolipidosis type IV | 3 | Oct 10, 2025 |
| Mucopolysaccharidosis, MPS-II | 1 | Sep 16, 2025 |
| Mucopolysaccharidosis, MPS-III-A | 4 | Mar 6, 2026 |
| Mucopolysaccharidosis, MPS-III-B | 2 | Oct 2, 2024 |
| Mucopolysaccharidosis, MPS-III-C | 1 | Oct 8, 2020 |
| Mucopolysaccharidosis, MPS-III-D | 1 | Apr 20, 2020 |
| Mucopolysaccharidosis, MPS-IV-A | 2 | Feb 2, 2024 |
| Muenke syndrome | 1 | Aug 8, 2025 |
| Muir-Torré syndrome | 1 | Oct 12, 2020 |
| Mullegama-Klein-Martinez syndrome | 1 | Sep 23, 2021 |
| Multiple benign circumferential skin creases on limbs 1 | 1 | Apr 5, 2024 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 2 | Oct 12, 2020 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 2 | Oct 8, 2020 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 5 | Mar 6, 2026 |
| Multiple congenital exostosis | 2 | Oct 12, 2020 |
| Multiple endocrine neoplasia type 2A | 2 | Mar 1, 2024 |
| Multiple endocrine neoplasia type 2B | 4 | Oct 12, 2020 |
| Multiple endocrine neoplasia type 4 | 4 | Dec 12, 2024 |
| Multiple endocrine neoplasia, type 1 | 5 | Apr 8, 2025 |
| Multiple epiphyseal dysplasia type 1 | 3 | Mar 6, 2026 |
| Multiple epiphyseal dysplasia type 4 | 1 | Apr 20, 2020 |
| Multiple mitochondrial dysfunctions syndrome 1 | 3 | Nov 14, 2025 |
| Muscular dystrophy, limb-girdle, autosomal recessive 23 | 4 | Mar 6, 2026 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 1 | Dec 8, 2023 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | 2 | Mar 4, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | 1 | Oct 12, 2020 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 | 2 | Nov 1, 2023 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | 1 | Apr 5, 2024 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 | 1 | Oct 12, 2020 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | 2 | Oct 2, 2024 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | 3 | Oct 2, 2024 |
| Myasthenic syndrome, congenital, 22 | 2 | Apr 8, 2025 |
| Myelodysplastic syndrome | 1 | Oct 2, 2024 |
| Myeloperoxidase deficiency | 1 | Oct 12, 2020 |
| Myhre syndrome | 2 | Apr 20, 2020 |
| Myoclonic dystonia 11 | 1 | Dec 12, 2024 |
| Myoclonic epilepsy of Lafora 2 | 2 | Oct 10, 2025 |
| Myoclonus, intractable, neonatal | 1 | Oct 12, 2020 |
| Myofibrillar myopathy 2 | 1 | Jun 3, 2022 |
| Myofibrillar myopathy 5 | 2 | Oct 2, 2024 |
| Myopathy, centronuclear, 2 | 1 | Mar 1, 2024 |
| Myopathy, congenital, with tremor | 1 | Sep 29, 2021 |
| Myopathy, distal, 6, adult-onset, autosomal dominant | 1 | Oct 12, 2020 |
| Myopathy, myofibrillar, 9, with early respiratory failure | 1 | Oct 12, 2020 |
| Myopathy, proximal, and ophthalmoplegia | 3 | Oct 2, 2024 |
| Myopia | 1 | Dec 28, 2021 |
| Myopia 24, autosomal dominant | 1 | Sep 23, 2021 |
| Myopia 26, X-linked, female-limited | 1 | Nov 14, 2025 |
| Myosin storage myopathy | 2 | Apr 20, 2020 |
| NARP syndrome | 1 | Oct 2, 2024 |
| NCKAP1-associated Neurodevelopmental disorder | 1 | Mar 4, 2025 |
| NEK9-related lethal skeletal dysplasia | 1 | Oct 12, 2020 |
| NPTN-associated neurodevelopmental disorder | 1 | Mar 6, 2026 |
| NPTN-related neurodevelopmental disorder | 7 | Apr 9, 2025 |
| NUSAP1-associated neurodevelopmental disorder | 1 | Jan 6, 2026 |
| Nager syndrome | 1 | Feb 7, 2023 |
| Nail-patella syndrome | 3 | Mar 6, 2026 |
| Nemaline myopathy 2 | 3 | Oct 12, 2020 |
| Nemaline myopathy 6 | 1 | Oct 2, 2024 |
| Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | 1 | Jun 4, 2025 |
| Nephronophthisis 16 | 3 | Feb 5, 2021 |
| Nephrotic syndrome, type 2 | 4 | Dec 12, 2024 |
| Nephrotic syndrome, type 3 | 2 | Dec 12, 2024 |
| Nephrotic syndrome, type 4 | 1 | Apr 20, 2020 |
| Netherton syndrome | 2 | Jun 4, 2025 |
| Neu-Laxova syndrome 1 | 1 | Oct 12, 2020 |
| Neurodegeneration with ataxia and late-onset optic atrophy | 1 | Dec 19, 2022 |
| Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 1 | Apr 20, 2020 |
| Neurodegeneration with brain iron accumulation 2B | 2 | Oct 8, 2020 |
| Neurodegeneration with brain iron accumulation 5 | 11 | Mar 6, 2026 |
| Neurodegeneration with brain iron accumulation 9 | 1 | Sep 16, 2025 |
| Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline | 1 | Mar 7, 2021 |
| Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline | 1 | Apr 5, 2024 |
| Neurodevelopmental delay | 27 | Apr 14, 2023 |
| Neurodevelopmental disorder | 60 | Mar 22, 2024 |
| Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity | 1 | Oct 2, 2024 |
| Neurodevelopmental disorder with absent language and variable seizures | 1 | Nov 1, 2023 |
| Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly | 1 | Nov 23, 2021 |
| Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | 1 | Oct 10, 2025 |
| Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia | 1 | Apr 8, 2025 |
| Neurodevelopmental disorder with central and peripheral motor dysfunction | 1 | Oct 2, 2024 |
| Neurodevelopmental disorder with central hypotonia and dysmorphic facies | 1 | Nov 14, 2025 |
| Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | 1 | Jul 22, 2021 |
| Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | 5 | Oct 10, 2025 |
| Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | 1 | Apr 5, 2024 |
| Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | 2 | Sep 23, 2021 |
| Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum | 1 | Oct 2, 2024 |
| Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia | 3 | Apr 14, 2023 |
| Neurodevelopmental disorder with eye movement abnormalities and ataxia | 2 | Oct 2, 2024 |
| Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked | 1 | Apr 5, 2024 |
| Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities | 1 | Oct 2, 2024 |
| Neurodevelopmental disorder with hearing loss and spasticity | 4 | Oct 10, 2025 |
| Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures | 2 | Mar 1, 2024 |
| Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | 7 | Nov 1, 2023 |
| Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language | 1 | Mar 6, 2026 |
| Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | 3 | Jan 10, 2025 |
| Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | 2 | Dec 8, 2023 |
| Neurodevelopmental disorder with hypotonia, microcephaly, and seizures | 1 | Oct 2, 2024 |
| Neurodevelopmental disorder with hypotonia, seizures, and absent language | 3 | Mar 4, 2025 |
| Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language | 10 | Oct 10, 2025 |
| Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | 1 | Oct 12, 2020 |
| Neurodevelopmental disorder with impaired language and ataxia and with or without seizures | 1 | Aug 16, 2023 |
| Neurodevelopmental disorder with involuntary movements | 3 | Mar 6, 2026 |
| Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures | 2 | Mar 6, 2026 |
| Neurodevelopmental disorder with language delay and variable cognitive abnormalities | 1 | Apr 5, 2024 |
| Neurodevelopmental disorder with language impairment and behavioral abnormalities | 6 | Oct 2, 2024 |
| Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder | 1 | Dec 5, 2025 |
| Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia | 1 | Jun 4, 2025 |
| Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | 1 | Oct 12, 2020 |
| Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment | 2 | Feb 7, 2023 |
| Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | 1 | Feb 25, 2020 |
| Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures | 2 | Oct 2, 2024 |
| Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | 2 | Feb 25, 2020 |
| Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | 2 | Oct 12, 2020 |
| Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | 5 | Oct 10, 2025 |
| Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 3 | Oct 2, 2024 |
| Neurodevelopmental disorder with or without autism or seizures | 1 | Jun 4, 2025 |
| Neurodevelopmental disorder with or without early-onset generalized epilepsy | 5 | Mar 6, 2026 |
| Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 8 | Jan 6, 2025 |
| Neurodevelopmental disorder with or without seizures and gait abnormalities | 6 | Nov 14, 2025 |
| Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | 12 | Apr 29, 2022 |
| Neurodevelopmental disorder with or without variable movement or behavioral abnormalities | 3 | Aug 8, 2025 |
| Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | 3 | Apr 8, 2025 |
| Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | 7 | Nov 14, 2025 |
| Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies | 2 | Oct 2, 2024 |
| Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | 2 | Jul 22, 2021 |
| Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities | 1 | Aug 16, 2023 |
| Neurodevelopmental disorder with severe motor impairment and absent language | 5 | Mar 6, 2026 |
| Neurodevelopmental disorder with speech impairment and dysmorphic facies | 2 | Oct 28, 2022 |
| Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination | 1 | Apr 8, 2025 |
| Neurodevelopmental, jaw, eye, and digital syndrome | 1 | Mar 1, 2024 |
| Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities | 2 | Oct 10, 2025 |
| Neurofibromatosis, type 1 | 74 | Mar 6, 2026 |
| Neurofibromatosis-Noonan syndrome | 5 | Sep 16, 2025 |
| Neurohypophyseal diabetes insipidus | 2 | Sep 23, 2021 |
| Neuronal ceroid lipofuscinosis 1 | 3 | Nov 1, 2023 |
| Neuronal ceroid lipofuscinosis 13 | 2 | Feb 7, 2023 |
| Neuronal ceroid lipofuscinosis 2 | 3 | Jun 4, 2025 |
| Neuronopathy, distal hereditary motor, autosomal dominant 11 | 2 | Apr 8, 2025 |
| Neuronopathy, distal hereditary motor, autosomal recessive 8 | 2 | Dec 8, 2023 |
| Neuronopathy, distal hereditary motor, type 2B | 4 | Mar 4, 2025 |
| Neuronopathy, distal hereditary motor, type 2D | 1 | Sep 23, 2021 |
| Neuronopathy, distal hereditary motor, type 5B | 1 | Jan 10, 2025 |
| Neuronopathy, distal hereditary motor, type 7A | 2 | Feb 2, 2024 |
| Neuroocular syndrome | 1 | Sep 29, 2022 |
| Neuroocular syndrome 1 | 2 | Mar 6, 2026 |
| Neurooculocardiogenitourinary syndrome | 1 | Dec 28, 2021 |
| Neuropathy, hereditary sensory and autonomic, type 1A | 1 | Sep 4, 2023 |
| Neuropathy, hereditary sensory, type 1D | 2 | Sep 23, 2021 |
| Neutral 1 amino acid transport defect | 2 | Apr 5, 2024 |
| New-onset refractory status epilepticus | 1 | Oct 2, 2024 |
| Nicolaides-Baraitser syndrome | 11 | Apr 29, 2022 |
| Niemann-Pick disease, type A | 3 | Aug 16, 2023 |
| Niemann-Pick disease, type C1 | 6 | Jun 4, 2025 |
| Nizon-Isidor syndrome | 2 | Dec 19, 2022 |
| Noncompaction cardiomyopathy | 2 | Dec 28, 2021 |
| Noonan syndrome 1 | 10 | Mar 6, 2026 |
| Noonan syndrome 10 | 3 | Mar 6, 2026 |
| Noonan syndrome 12 | 2 | Dec 12, 2024 |
| Noonan syndrome 13 | 1 | Oct 2, 2024 |
| Noonan syndrome 2 | 3 | Apr 8, 2025 |
| Noonan syndrome 3 | 3 | Aug 8, 2025 |
| Noonan syndrome 4 | 3 | Aug 16, 2023 |
| Noonan syndrome 5 | 1 | Aug 16, 2023 |
| Noonan syndrome 6 | 1 | Mar 6, 2026 |
| Noonan syndrome 7 | 2 | Dec 28, 2021 |
| Noonan syndrome 8 | 2 | Dec 12, 2024 |
| Noonan syndrome 9 | 1 | Apr 20, 2020 |
| Noonan syndrome-like disorder with loose anagen hair 1 | 2 | Mar 6, 2026 |
| Norman-Roberts syndrome | 1 | Oct 12, 2020 |
| Nystagmus 1, congenital, X-linked | 2 | Sep 16, 2025 |
| O'Donnell-Luria-Rodan syndrome | 7 | Jul 8, 2025 |
| Obesity | 8 | Apr 14, 2023 |
| Obesity due to SIM1 deficiency | 1 | Sep 29, 2022 |
| Obesity due to leptin receptor gene deficiency | 2 | Oct 2, 2024 |
| Obesity due to pro-opiomelanocortin deficiency | 1 | Feb 7, 2023 |
| Obesity, hyperphagia, and developmental delay | 15 | Apr 10, 2024 |
| Occipital pachygyria and polymicrogyria | 1 | Apr 20, 2020 |
| Occult macular dystrophy | 1 | Mar 4, 2025 |
| Ocular albinism, type I | 1 | Sep 22, 2023 |
| Oculocerebrofacial syndrome, Kaufman type | 2 | Oct 8, 2020 |
| Oculocutaneous albinism type 1A | 2 | Mar 6, 2026 |
| Oculocutaneous albinism type 1B | 2 | Jun 4, 2025 |
| Oculocutaneous albinism type 4 | 2 | Jun 4, 2025 |
| Oculocutaneous albinism type 6 | 1 | Jan 6, 2026 |
| Oculofaciocardiodental syndrome | 3 | Jan 10, 2025 |
| Oculomotor apraxia | 1 | Sep 23, 2021 |
| Oculootoradial syndrome | 2 | Sep 23, 2021 |
| Ogden syndrome | 5 | Aug 8, 2025 |
| Okur-Chung neurodevelopmental syndrome | 7 | Mar 6, 2026 |
| Optic atrophy | 1 | Jun 3, 2022 |
| Optic atrophy 12 | 1 | Apr 5, 2024 |
| Optic atrophy 13 with retinal and foveal abnormalities | 1 | Oct 2, 2024 |
| Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | 1 | Oct 4, 2021 |
| Oral motor hypotonia | 1 | Dec 28, 2021 |
| Ornithine carbamoyltransferase deficiency | 4 | Mar 6, 2026 |
| Orofacial cleft 11 | 1 | Sep 23, 2021 |
| Orofaciodigital syndrome I | 2 | Dec 12, 2024 |
| Osteochondritis dissecans | 6 | Apr 20, 2020 |
| Osteogenesis imperfecta type 15 | 1 | Nov 1, 2023 |
| Osteogenesis imperfecta type 7 | 1 | Oct 12, 2020 |
| Osteogenesis imperfecta type 8 | 2 | Oct 12, 2020 |
| Osteogenesis imperfecta type I | 8 | Mar 4, 2025 |
| Osteogenesis imperfecta type III | 2 | Apr 8, 2025 |
| Osteogenesis imperfecta with normal sclerae, dominant form | 2 | Mar 4, 2025 |
| Osteogenesis imperfecta, perinatal lethal | 1 | Apr 5, 2024 |
| Osteopathia striata with cranial sclerosis | 2 | Oct 12, 2020 |
| Osteoporosis with pseudoglioma | 1 | Jan 10, 2025 |
| Otospondylomegaepiphyseal dysplasia, autosomal recessive | 2 | Apr 14, 2023 |
| Ovarian cancer, susceptibility to, 1 | 1 | Apr 8, 2025 |
| Ovarian carcinoma | 2 | Apr 29, 2022 |
| Ovarian dysgenesis 7 | 1 | Mar 6, 2026 |
| Ovarian neoplasm | 4 | Oct 12, 2020 |
| PCWH syndrome | 2 | Sep 23, 2021 |
| PGM1-congenital disorder of glycosylation | 1 | Apr 20, 2020 |
| PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 11 | Jun 4, 2025 |
| PLIN1-related familial partial lipodystrophy | 1 | Apr 20, 2020 |
| PMM2-congenital disorder of glycosylation | 4 | Apr 5, 2024 |
| POLG-related disorder | 2 | Feb 7, 2023 |
| PPARG-related familial partial lipodystrophy | 7 | Oct 10, 2025 |
| PPFIA3-associated neurodevelopmental disorder | 2 | Oct 2, 2024 |
| PRICKLE2-associated neurodevelopmental disorder | 1 | Oct 2, 2024 |
| PRMT9-associated neurodevelopmental disorder | 2 | Nov 14, 2025 |
| PRRT2 insufficiency | 1 | Oct 8, 2020 |
| PSMD11-associated obesity and neurodevelopmental disorder | 1 | Jun 4, 2025 |
| PTPN4-associated disorder | 1 | Feb 2, 2024 |
| PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 9 | Oct 2, 2024 |
| Pachygyria | 1 | Mar 2, 2022 |
| Paget disease of bone 3 | 1 | Apr 20, 2020 |
| Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | 1 | Dec 12, 2024 |
| Palmoplantar keratoderma i, striate, focal, or diffuse | 1 | Jan 31, 2022 |
| Palmoplantar keratoderma, epidermolytic | 2 | Aug 16, 2023 |
| Palmoplantar keratoderma, nonepidermolytic, focal 1 | 1 | Oct 2, 2024 |
| Palmoplantar keratoderma, punctate type 1A | 1 | Oct 12, 2020 |
| Pan-Chung-Bellen syndrome | 1 | Mar 4, 2025 |
| Pancreatic agenesis 3 | 1 | Jun 4, 2025 |
| Pancreatic cancer, susceptibility to, 2 | 1 | Oct 28, 2022 |
| Pancreatic cancer, susceptibility to, 3 | 1 | Feb 2, 2024 |
| Pancytopenia due to IKZF1 mutations | 1 | Sep 23, 2021 |
| Papillary renal cell carcinoma type 1 | 1 | Jul 22, 2021 |
| Paramyotonia congenita of Von Eulenburg | 2 | Dec 12, 2024 |
| Parastremmatic dwarfism | 1 | Apr 20, 2020 |
| Parenti-mignot neurodevelopmental syndrome | 4 | Dec 5, 2025 |
| Parkinson disease, late-onset | 4 | Sep 4, 2023 |
| Paroxysmal atrial fibrillation | 1 | Feb 7, 2023 |
| Paroxysmal nonkinesigenic dyskinesia 1 | 1 | Apr 20, 2020 |
| Partial androgen insensitivity syndrome | 2 | Apr 5, 2024 |
| Patent foramen ovale | 1 | Dec 28, 2021 |
| Patterned macular dystrophy 1 | 2 | Mar 4, 2025 |
| Peeling skin syndrome 6 | 1 | Oct 12, 2020 |
| Pelizaeus-Merzbacher disease | 1 | Jun 3, 2022 |
| Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | 2 | Apr 29, 2022 |
| Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | 1 | Apr 29, 2022 |
| Periventricular heterotopia with microcephaly, autosomal recessive | 1 | Oct 12, 2020 |
| Periventricular nodular heterotopia 9 | 2 | Mar 6, 2026 |
| Perlman syndrome | 1 | Oct 12, 2020 |
| Peroxisome biogenesis disorder 1A (Zellweger) | 2 | Mar 6, 2026 |
| Peroxisome biogenesis disorder 2B | 1 | Apr 20, 2020 |
| Perrault syndrome 3 | 1 | Oct 2, 2024 |
| Perrault syndrome 4 | 2 | Apr 5, 2024 |
| Perry syndrome | 1 | Apr 20, 2020 |
| Pes cavus | 1 | Dec 28, 2021 |
| Pes planus | 1 | Feb 7, 2023 |
| Pes valgus | 1 | Dec 28, 2021 |
| Peutz-Jeghers syndrome | 2 | Jul 22, 2022 |
| Pfeiffer syndrome | 1 | Jul 22, 2022 |
| Phelan-McDermid syndrome | 13 | Mar 6, 2026 |
| Phenylketonuria | 9 | Mar 6, 2026 |
| Pheochromocytoma | 3 | Aug 16, 2023 |
| Pheochromocytoma/paraganglioma syndrome 1 | 2 | Jan 6, 2026 |
| Pheochromocytoma/paraganglioma syndrome 2 | 2 | Oct 12, 2020 |
| Pheochromocytoma/paraganglioma syndrome 3 | 1 | Apr 5, 2024 |
| Pheochromocytoma/paraganglioma syndrome 5 | 1 | Oct 2, 2024 |
| Phosphoribosylpyrophosphate synthetase superactivity | 1 | Apr 5, 2024 |
| Phytanic acid storage disease | 3 | Oct 2, 2024 |
| Piebaldism | 1 | Jul 8, 2025 |
| Pierpont syndrome | 3 | Mar 2, 2022 |
| Pigmentary retinal dystrophy | 1 | Nov 1, 2023 |
| Pigmented nodular adrenocortical disease, primary, 2 | 1 | Oct 12, 2020 |
| Pilarowski-Bjornsson syndrome | 1 | Oct 12, 2020 |
| Pitt-Hopkins syndrome | 5 | Feb 7, 2023 |
| Pitt-Hopkins-like syndrome 2 | 1 | Apr 20, 2020 |
| Pituitary hormone deficiency, combined, 1 | 1 | Apr 20, 2020 |
| Pituitary hormone deficiency, combined, 2 | 2 | Sep 23, 2021 |
| Pituitary stalk interruption syndrome | 5 | May 10, 2021 |
| Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | 1 | Apr 20, 2020 |
| Platelet-type bleeding disorder 10 | 1 | Mar 4, 2025 |
| Pleuropulmonary blastoma | 1 | Aug 8, 2025 |
| Poirier-Bienvenu neurodevelopmental syndrome | 13 | Aug 8, 2025 |
| Polycystic kidney disease | 1 | Oct 2, 2024 |
| Polycystic kidney disease 2 | 3 | Aug 8, 2025 |
| Polycystic kidney disease 4 | 7 | Sep 4, 2023 |
| Polycystic kidney disease, adult type | 37 | Mar 6, 2026 |
| Polycystic liver disease 1 | 2 | Apr 8, 2025 |
| Polydactyly, postaxial, type A9 | 1 | May 17, 2023 |
| Polydactyly, postaxial, type a7 | 1 | Nov 14, 2025 |
| Polyglandular autoimmune syndrome, type 1 | 2 | Dec 5, 2025 |
| Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | 1 | Apr 8, 2025 |
| Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | 2 | Oct 2, 2024 |
| Polyneuropathy | 1 | Oct 12, 2020 |
| Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal | 1 | Oct 12, 2020 |
| Pontocerebellar hypoplasia type 10 | 1 | Dec 8, 2023 |
| Pontocerebellar hypoplasia type 1B | 2 | Sep 16, 2025 |
| Pontocerebellar hypoplasia type 2A | 1 | Oct 2, 2024 |
| Pontocerebellar hypoplasia type 2D | 2 | Mar 1, 2024 |
| Pontocerebellar hypoplasia type 8 | 1 | Mar 6, 2026 |
| Pontocerebellar hypoplasia type 9 | 2 | Nov 23, 2021 |
| Pontocerebellar hypoplasia, type 14 | 2 | Apr 14, 2023 |
| Pontocerebellar hypoplasia, type 16 | 4 | Nov 23, 2021 |
| Pontocerebellar hypoplasia, type 2F | 1 | Oct 8, 2020 |
| Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | 6 | Sep 23, 2021 |
| Potassium-aggravated myotonia | 2 | Apr 14, 2023 |
| Precocious puberty in females | 1 | Feb 7, 2023 |
| Premature birth | 1 | Dec 28, 2021 |
| Premature ovarian failure 15 | 1 | Oct 12, 2020 |
| Premature ovarian failure 2A | 1 | Oct 12, 2020 |
| Prieto syndrome | 1 | Dec 12, 2024 |
| Primary ciliary dyskinesia 14 | 1 | Oct 12, 2020 |
| Primary ciliary dyskinesia 3 | 1 | Oct 2, 2024 |
| Primary ciliary dyskinesia 5 | 1 | Mar 4, 2025 |
| Primary ciliary dyskinesia 7 | 1 | Sep 23, 2021 |
| Primary erythromelalgia | 3 | Aug 8, 2025 |
| Primary failure of tooth eruption | 1 | Mar 6, 2026 |
| Primary hyperoxaluria, type I | 2 | Oct 2, 2024 |
| Primary hypomagnesemia | 2 | Mar 6, 2026 |
| Primary microcephaly | 1 | Feb 7, 2023 |
| Primary myelofibrosis | 1 | Dec 19, 2022 |
| Primrose syndrome | 3 | Dec 12, 2024 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 1 | Oct 2, 2024 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | 1 | Apr 20, 2020 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 2 | Apr 5, 2024 |
| Progressive familial heart block type IB | 3 | Oct 12, 2020 |
| Progressive myoclonic epilepsy type 7 | 2 | Feb 7, 2023 |
| Progressive sclerosing poliodystrophy | 6 | Apr 8, 2025 |
| Propionic acidemia | 1 | Oct 12, 2020 |
| Proportionate short stature | 1 | Dec 28, 2021 |
| Prostate cancer | 2 | Apr 5, 2024 |
| Prostate cancer, hereditary, 1 | 1 | Dec 19, 2022 |
| Prostate cancer/brain cancer susceptibility | 1 | Oct 12, 2020 |
| Protoporphyria, erythropoietic, 1 | 1 | Apr 5, 2024 |
| Pseudohypoaldosteronism type 2E | 1 | Apr 20, 2020 |
| Pseudohypoparathyroidism | 2 | Apr 20, 2020 |
| Pseudohypoparathyroidism type 1B | 1 | Oct 12, 2020 |
| Pseudohypoparathyroidism type I A | 4 | Mar 6, 2026 |
| Pseudopseudohypoparathyroidism | 1 | Oct 2, 2024 |
| Pulmonary alveolar proteinosis with hypogammaglobulinemia | 1 | Aug 16, 2023 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | 1 | Apr 20, 2020 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | 1 | Mar 6, 2026 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | 1 | Jan 6, 2026 |
| Pyridoxal phosphate-responsive seizures | 3 | Sep 29, 2021 |
| Pyridoxine-dependent epilepsy | 3 | Oct 2, 2024 |
| Pyruvate dehydrogenase E1-alpha deficiency | 5 | Nov 23, 2021 |
| Pyruvate dehydrogenase E3-binding protein deficiency | 2 | Apr 5, 2024 |
| Pyruvate kinase deficiency of red cells | 5 | Jan 6, 2026 |
| RASopathy | 1 | Sep 22, 2023 |
| RFX3-associated neurodevelopmental disorder | 1 | Jun 4, 2025 |
| RNU4-1-associated neurodevelopmental disorder | 1 | Oct 9, 2024 |
| RNU4-2-associated neurodevelopmental disorder | 1 | Apr 10, 2024 |
| RNU5A-1-associated neurodevelopmental disorder | 2 | Oct 9, 2024 |
| RNU5B-1-associated neurodevelopmental disorder | 4 | Oct 9, 2024 |
| RNU5E-1-associated neurodevelopmental disorder | 1 | Oct 9, 2024 |
| RNU5F-1-associated neurodevelopmental disorder | 1 | Oct 9, 2024 |
| RNU6ATAC-associated neurodevelopmental disorder | 1 | Oct 9, 2024 |
| RNVU1-22-associated neurodevelopmental disorder | 1 | Oct 9, 2024 |
| RNVU1-27-associated neurodevelopmental disorder | 1 | Oct 9, 2024 |
| RORB-associated seizure disorder | 1 | Nov 14, 2025 |
| RUNX1T1-associated neurodevelopmental disorder | 1 | Jul 8, 2025 |
| RYR1-related disorder | 2 | Aug 11, 2023 |
| Radial aplasia-thrombocytopenia syndrome | 1 | May 17, 2023 |
| Radio-Tartaglia syndrome | 5 | Oct 2, 2024 |
| Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | 1 | Oct 2, 2024 |
| Rafiq syndrome | 1 | Oct 8, 2020 |
| Rahman syndrome | 2 | Nov 23, 2021 |
| Rauch-Steindl syndrome | 5 | Sep 16, 2025 |
| Recessive dystrophic epidermolysis bullosa | 2 | Dec 19, 2022 |
| Recurrent infections | 1 | Oct 12, 2020 |
| Recurrent infections of the middle ear | 1 | Sep 23, 2021 |
| Recurrent respiratory infections | 1 | Sep 23, 2021 |
| Reduced social responsiveness | 1 | Dec 28, 2021 |
| Renal coloboma syndrome | 2 | Sep 16, 2025 |
| Renal cyst | 1 | Oct 12, 2020 |
| Renal cysts and diabetes syndrome | 2 | Apr 5, 2024 |
| Renal hypodysplasia/aplasia 3 | 2 | Nov 1, 2023 |
| Renal neoplasm | 1 | Apr 20, 2020 |
| Renal tubular acidosis, distal, 4, with hemolytic anemia | 1 | Aug 16, 2023 |
| Renal tubular dysgenesis of genetic origin | 1 | Feb 7, 2023 |
| Renpenning syndrome | 2 | Dec 5, 2025 |
| Retinal degeneration | 2 | Apr 29, 2022 |
| Retinal dystrophy | 2 | Apr 29, 2022 |
| Retinal macular dystrophy type 2 | 1 | Sep 29, 2021 |
| Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | 2 | Feb 7, 2023 |
| Retinitis pigmentosa 1 | 5 | Jan 10, 2025 |
| Retinitis pigmentosa 10 | 1 | Mar 2, 2022 |
| Retinitis pigmentosa 11 | 1 | Dec 12, 2024 |
| Retinitis pigmentosa 19 | 3 | Oct 2, 2024 |
| Retinitis pigmentosa 25 | 5 | Apr 5, 2024 |
| Retinitis pigmentosa 26 | 2 | Sep 29, 2021 |
| Retinitis pigmentosa 3 | 4 | Mar 4, 2025 |
| Retinitis pigmentosa 30 | 1 | Oct 12, 2020 |
| Retinitis pigmentosa 31 | 1 | Oct 12, 2020 |
| Retinitis pigmentosa 37 | 3 | Jun 3, 2022 |
| Retinitis pigmentosa 39 | 16 | Nov 14, 2025 |
| Retinitis pigmentosa 4 | 5 | Jan 6, 2026 |
| Retinitis pigmentosa 42 | 2 | Oct 2, 2024 |
| Retinitis pigmentosa 44 | 1 | Jan 31, 2022 |
| Retinitis pigmentosa 45 | 1 | Oct 12, 2020 |
| Retinitis pigmentosa 47 | 2 | Apr 14, 2023 |
| Retinitis pigmentosa 60 | 1 | Apr 20, 2020 |
| Retinitis pigmentosa 62 | 1 | Dec 12, 2024 |
| Retinitis pigmentosa 7 | 3 | Oct 2, 2024 |
| Retinitis pigmentosa 73 | 4 | Sep 16, 2025 |
| Retinitis pigmentosa 76 | 1 | Oct 2, 2024 |
| Retinitis pigmentosa 77 | 1 | Mar 6, 2026 |
| Retinitis pigmentosa 80 | 2 | Nov 23, 2021 |
| Retinitis pigmentosa 89 | 1 | Sep 4, 2023 |
| Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome | 2 | Oct 2, 2024 |
| Rett syndrome | 29 | Oct 10, 2025 |
| Rhabdoid tumor predisposition syndrome 2 | 1 | Apr 5, 2024 |
| Ritscher-Schinzel syndrome 1 | 1 | Oct 12, 2020 |
| Ritscher-Schinzel syndrome 2 | 2 | Apr 20, 2020 |
| Ritscher-Schinzel syndrome 4 | 2 | Mar 6, 2026 |
| Roifman syndrome | 4 | Nov 14, 2025 |
| Round ear | 1 | Nov 23, 2021 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 7 | Mar 6, 2026 |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 9 | Dec 12, 2024 |
| SF1-associated neurodevelopmental disorder | 1 | Mar 6, 2026 |
| SH2B1-associated disorder | 1 | Dec 8, 2023 |
| SH2B1-associated obesity | 1 | Jun 4, 2025 |
| SHANK1-associated neurodevelopmental disorder | 1 | Mar 1, 2024 |
| SHORT syndrome | 3 | Mar 4, 2025 |
| SHOX-related short stature | 1 | Oct 12, 2020 |
| SIN3A-related intellectual disability syndrome due to a point mutation | 3 | Jan 6, 2026 |
| SLC35A2-congenital disorder of glycosylation | 3 | Oct 2, 2024 |
| SLC39A8-CDG | 1 | Oct 8, 2020 |
| SMARCA5-associated neurodevelopmental disorder | 2 | Mar 4, 2025 |
| SMARCB1-related schwannomatosis | 3 | Dec 8, 2023 |
| SNW1-associated neurodevelopmental disorder | 1 | Jan 6, 2026 |
| SP9-associated disorder | 1 | Feb 2, 2024 |
| SPOUT1-associated neurodevelopmental disorder | 1 | Oct 2, 2024 |
| STAT3-related early-onset multisystem autoimmune disease | 2 | Mar 4, 2025 |
| STING-associated vasculopathy with onset in infancy | 2 | Jul 8, 2025 |
| STX1A-associated neurodevelopmental disorder | 1 | Mar 6, 2026 |
| SYNCRIP-associated neurodevelopmental disorder | 2 | Sep 22, 2023 |
| Saethre-Chotzen syndrome | 1 | Dec 12, 2024 |
| Saldino-Mainzer syndrome | 2 | Dec 28, 2021 |
| Sandhoff disease | 4 | Sep 16, 2025 |
| Sarcoma | 1 | Oct 12, 2020 |
| Schaaf-Yang syndrome | 3 | Feb 2, 2024 |
| Schimke immuno-osseous dysplasia | 2 | Oct 2, 2024 |
| Schinzel-Giedion syndrome | 1 | Oct 2, 2024 |
| Schizophrenia | 1 | Dec 28, 2021 |
| Schuurs-Hoeijmakers syndrome | 1 | Feb 6, 2024 |
| Schwartz-Jampel syndrome | 1 | Oct 12, 2020 |
| Schwartz-Jampel syndrome type 1 | 1 | Feb 7, 2023 |
| Seckel syndrome 6 | 1 | Oct 12, 2020 |
| See cases | 14 | Sep 22, 2023 |
| Seizure | 43 | Apr 14, 2023 |
| Seizures, benign familial infantile, 2 | 7 | Jun 4, 2025 |
| Seizures, benign familial infantile, 3 | 7 | Jun 4, 2025 |
| Seizures, benign familial infantile, 5 | 8 | Mar 6, 2026 |
| Seizures, benign familial neonatal, 1 | 11 | Mar 6, 2026 |
| Seizures, benign familial neonatal, 2 | 5 | Jan 6, 2026 |
| Self-injurious behavior | 2 | Apr 14, 2023 |
| Senior-Loken syndrome 5 | 2 | Nov 14, 2025 |
| Sensorineural hearing loss disorder | 1 | Sep 29, 2022 |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 2 | Apr 5, 2024 |
| Severe X-linked mitochondrial encephalomyopathy | 2 | Aug 8, 2025 |
| Severe X-linked myotubular myopathy | 1 | Apr 20, 2020 |
| Severe combined immunodeficiency due to CARMIL2 deficiency | 2 | Nov 14, 2025 |
| Severe dermatitis-multiple allergies-metabolic wasting syndrome | 1 | Oct 2, 2024 |
| Severe early-childhood-onset retinal dystrophy | 27 | Apr 8, 2025 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 11 | Jan 6, 2026 |
| Severe global developmental delay | 5 | Sep 29, 2022 |
| Severe hydrops fetalis | 2 | Dec 28, 2021 |
| Severe intellectual disability | 16 | Sep 29, 2022 |
| Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | 2 | Oct 12, 2020 |
| Severe intellectual disability-progressive spastic diplegia syndrome | 5 | Oct 2, 2024 |
| Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | 1 | Oct 12, 2020 |
| Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | 1 | Apr 20, 2020 |
| Severe myoclonic epilepsy in infancy | 60 | Jan 6, 2026 |
| Severe neonatal-onset encephalopathy with microcephaly | 2 | Oct 12, 2020 |
| Short 5th finger | 1 | Oct 4, 2021 |
| Short QT syndrome type 1 | 1 | Jan 6, 2026 |
| Short finger | 1 | Dec 28, 2021 |
| Short foot | 2 | Dec 28, 2021 |
| Short philtrum | 1 | Feb 7, 2023 |
| Short stature | 7 | Sep 29, 2022 |
| Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | 1 | Dec 12, 2024 |
| Short stature due to growth hormone secretagogue receptor deficiency | 2 | Oct 2, 2024 |
| Short stature due to partial GHR deficiency | 2 | Jul 8, 2025 |
| Short stature due to primary acid-labile subunit deficiency | 2 | Oct 12, 2020 |
| Short stature with nonspecific skeletal abnormalities | 7 | Dec 12, 2024 |
| Short stature with nonspecific skeletal abnormalities 1 | 1 | Mar 6, 2026 |
| Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | 1 | Dec 28, 2021 |
| Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 1 | Aug 8, 2025 |
| Short stature-brachydactyly-obesity-global developmental delay syndrome | 1 | Apr 20, 2020 |
| Short stature-pituitary and cerebellar defects-small sella turcica syndrome | 1 | Apr 20, 2020 |
| Shprintzen-Goldberg syndrome | 1 | Oct 2, 2024 |
| Shwachman-Diamond syndrome 1 | 1 | Dec 28, 2021 |
| Sick sinus syndrome 2, autosomal dominant | 1 | Apr 20, 2020 |
| Sifrim-Hitz-Weiss syndrome | 4 | Sep 16, 2025 |
| Silver-Russell syndrome 3 | 4 | May 17, 2023 |
| Silver-russell syndrome 4 | 1 | Oct 2, 2024 |
| Single transverse palmar crease | 2 | Dec 28, 2021 |
| Sitosterolemia 1 | 1 | Jun 4, 2025 |
| Sitosterolemia 2 | 1 | Jul 22, 2021 |
| Situs inversus | 1 | Sep 23, 2021 |
| Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome | 1 | Mar 4, 2025 |
| Skraban-Deardorff syndrome | 2 | Nov 23, 2021 |
| Small face | 1 | Dec 28, 2021 |
| Small hand | 2 | Dec 28, 2021 |
| Smith-Lemli-Opitz syndrome | 3 | Oct 2, 2024 |
| Smith-Magenis syndrome | 6 | Feb 2, 2024 |
| Snijders Blok-Campeau syndrome | 15 | Jan 6, 2026 |
| Snijders blok-fisher syndrome | 3 | Mar 4, 2025 |
| Solitary median maxillary central incisor syndrome | 1 | Mar 4, 2025 |
| Sotos syndrome | 10 | Dec 5, 2025 |
| Sparse scalp hair | 1 | Feb 10, 2022 |
| Spastic ataxia 5 | 1 | Oct 12, 2020 |
| Spastic paraparesis | 1 | Apr 20, 2020 |
| Spastic paraplegia 30A, autosomal dominant | 1 | Mar 6, 2026 |
| Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia | 1 | Feb 2, 2024 |
| Spastic paraplegia, intellectual disability, nystagmus, and obesity | 1 | Dec 12, 2024 |
| Spastic paraplegia-severe developmental delay-epilepsy syndrome | 1 | Oct 8, 2020 |
| Spastic quadriplegic cerebral palsy | 1 | Oct 12, 2020 |
| Spasticity | 1 | Jul 22, 2022 |
| Specific granule deficiency 1 | 1 | Oct 12, 2020 |
| Specific learning disability | 1 | Dec 28, 2021 |
| Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | 4 | Oct 2, 2024 |
| Spinocerebellar ataxia 43 | 1 | Apr 20, 2020 |
| Spinocerebellar ataxia 45 | 2 | Oct 2, 2024 |
| Spinocerebellar ataxia 46 | 1 | Oct 12, 2020 |
| Spinocerebellar ataxia 47 | 2 | Nov 14, 2025 |
| Spinocerebellar ataxia 48 | 2 | Jul 8, 2025 |
| Spinocerebellar ataxia 50 | 1 | Oct 2, 2024 |
| Spinocerebellar ataxia type 1 | 1 | Oct 12, 2020 |
| Spinocerebellar ataxia type 11 | 2 | Apr 29, 2022 |
| Spinocerebellar ataxia type 13 | 2 | Apr 20, 2020 |
| Spinocerebellar ataxia type 14 | 1 | Jan 10, 2025 |
| Spinocerebellar ataxia type 15/16 | 2 | Oct 12, 2020 |
| Spinocerebellar ataxia type 17 | 2 | Jan 10, 2025 |
| Spinocerebellar ataxia type 19/22 | 2 | Oct 10, 2025 |
| Spinocerebellar ataxia type 27 | 1 | Feb 25, 2020 |
| Spinocerebellar ataxia type 28 | 1 | Apr 20, 2020 |
| Spinocerebellar ataxia type 29 | 2 | Jan 6, 2026 |
| Spinocerebellar ataxia type 35 | 1 | Apr 20, 2020 |
| Spinocerebellar ataxia type 38 | 1 | Mar 4, 2025 |
| Spinocerebellar ataxia type 40 | 1 | Sep 23, 2021 |
| Spinocerebellar ataxia type 5 | 3 | Oct 12, 2020 |
| Spinocerebellar ataxia type 6 | 1 | Apr 20, 2020 |
| Spinocerebellar ataxia, autosomal recessive 28 | 1 | Oct 8, 2020 |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 4 | Oct 12, 2020 |
| Spondylocostal dysostosis 2, autosomal recessive | 1 | Nov 1, 2023 |
| Spondylocostal dysostosis 3, autosomal recessive | 1 | Oct 12, 2020 |
| Spondyloenchondrodysplasia with immune dysregulation | 1 | Sep 23, 2021 |
| Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | 1 | Apr 8, 2025 |
| Spondyloepimetaphyseal dysplasia, Bieganski type | 1 | Nov 14, 2025 |
| Spondyloepimetaphyseal dysplasia, Missouri type | 1 | Apr 20, 2020 |
| Spondyloepiphyseal dysplasia, Kimberley type | 1 | Apr 20, 2020 |
| Spondyloepiphyseal dysplasia, Stanescu type | 1 | Oct 12, 2020 |
| Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis | 1 | Mar 6, 2026 |
| Spondylometaphyseal dysplasia, Sedaghatian type | 1 | Oct 2, 2024 |
| Spondyloperipheral dysplasia | 2 | Jun 4, 2025 |
| Stankiewicz-Isidor syndrome | 1 | Sep 16, 2025 |
| Status epilepticus | 2 | Sep 29, 2022 |
| Stickler syndrome type 1 | 3 | Oct 2, 2024 |
| Stickler syndrome type 2 | 2 | Aug 8, 2025 |
| Stickler syndrome, type 6 | 2 | Aug 8, 2025 |
| Stickler syndrome, type I, nonsyndromic ocular | 1 | Apr 8, 2025 |
| Subcutaneous panniculitis-like T-cell lymphoma | 1 | Apr 20, 2020 |
| Succinate-semialdehyde dehydrogenase deficiency | 3 | Nov 14, 2025 |
| Sucrase-isomaltase deficiency | 1 | Aug 16, 2023 |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | 1 | Mar 4, 2025 |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 | 1 | Dec 12, 2024 |
| Supravalvar aortic stenosis | 1 | Apr 20, 2020 |
| Surfactant metabolism dysfunction, pulmonary, 1 | 2 | Dec 8, 2023 |
| Surfactant metabolism dysfunction, pulmonary, 4 | 1 | Oct 12, 2020 |
| Symmetrical dyschromatosis of extremities | 1 | Oct 12, 2020 |
| Syndromic X-linked intellectual disability 14 | 3 | Oct 10, 2025 |
| Syndromic X-linked intellectual disability 34 | 1 | Feb 25, 2020 |
| Syndromic X-linked intellectual disability 94 | 8 | Oct 2, 2024 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 4 | Mar 6, 2026 |
| Syndromic X-linked intellectual disability Hedera type | 1 | Sep 23, 2021 |
| Syndromic X-linked intellectual disability Lubs type | 2 | Sep 22, 2023 |
| Syndromic X-linked intellectual disability Najm type | 4 | Apr 5, 2024 |
| Syndromic X-linked intellectual disability Siderius type | 1 | Oct 2, 2024 |
| Syndromic microphthalmia type 5 | 1 | Aug 16, 2023 |
| Synpolydactyly type 1 | 1 | Sep 29, 2021 |
| T-B+ severe combined immunodeficiency due to JAK3 deficiency | 1 | Mar 4, 2025 |
| T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant | 1 | Oct 2, 2024 |
| TAOK2-associated neurodevelopmental disorder | 2 | Apr 8, 2025 |
| TARP syndrome | 1 | Apr 20, 2020 |
| TCF12-related craniosynostosis | 2 | Oct 2, 2024 |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | 1 | Feb 25, 2020 |
| TMEM184B-associated neurodevelopmental disorder | 1 | Dec 5, 2025 |
| TMEM63B-associated disorder | 1 | Dec 8, 2023 |
| TNF receptor-associated periodic fever syndrome (TRAPS) | 2 | Mar 4, 2025 |
| TUBA1B-associated neurodevelopmental disorder | 1 | Aug 16, 2023 |
| TWIST1-related craniosynostosis | 1 | Nov 1, 2023 |
| Tall stature-scoliosis-macrodactyly of the great toes syndrome | 2 | Apr 20, 2020 |
| Tatton-Brown-Rahman overgrowth syndrome | 5 | Nov 14, 2025 |
| Tay-Sachs disease | 3 | Feb 2, 2024 |
| Tay-Sachs disease, variant AB | 1 | Apr 20, 2020 |
| Teebi hypertelorism syndrome 1 | 1 | Aug 16, 2023 |
| Telangiectasia, hereditary hemorrhagic, type 1 | 3 | Nov 14, 2025 |
| Telangiectasia, hereditary hemorrhagic, type 2 | 4 | Jan 6, 2026 |
| Telangiectasia, hereditary hemorrhagic, type 5 | 1 | Mar 2, 2022 |
| Temple-Baraitser syndrome | 4 | Apr 5, 2024 |
| Temtamy syndrome | 2 | Nov 23, 2021 |
| Tessadori-Van Haaften neurodevelopmental syndrome 3 | 1 | Apr 8, 2025 |
| Tetralogy of Fallot | 3 | May 18, 2021 |
| Thrombocytopenia 5 | 1 | Mar 4, 2025 |
| Thrombocytosis | 1 | Apr 20, 2020 |
| Thrombophilia due to protein C deficiency, autosomal dominant | 1 | Oct 2, 2024 |
| Thrombophilia due to protein S deficiency, autosomal dominant | 3 | Mar 6, 2026 |
| Timothy syndrome | 1 | Oct 2, 2024 |
| Tooth agenesis, selective, 3 | 1 | Jul 22, 2022 |
| Tooth agenesis, selective, 4 | 3 | Jan 6, 2026 |
| Tooth agenesis, selective, 8 | 1 | Oct 2, 2024 |
| Torsion dystonia 6 | 1 | Apr 20, 2020 |
| Townes-Brocks syndrome 2 | 1 | Oct 12, 2020 |
| Transient infantile hypertriglyceridemia and hepatosteatosis | 3 | Jan 6, 2026 |
| Treacher Collins syndrome 1 | 3 | Aug 8, 2025 |
| Treacher Collins syndrome 2 | 1 | Jan 6, 2026 |
| Tremor | 2 | Feb 7, 2023 |
| Trichorhinophalangeal dysplasia type I | 1 | Jul 22, 2021 |
| Trichorhinophalangeal syndrome, type III | 1 | Sep 4, 2023 |
| Tropical pancreatitis | 1 | Oct 12, 2020 |
| Troyer syndrome | 1 | Oct 8, 2020 |
| Tuberous sclerosis 1 | 19 | Mar 6, 2026 |
| Tuberous sclerosis 2 | 34 | Mar 6, 2026 |
| Tumor predisposition syndrome 3 | 1 | Mar 4, 2025 |
| Type 1 diabetes mellitus 20 | 1 | Oct 12, 2020 |
| Type 2 diabetes mellitus | 7 | Jun 4, 2025 |
| Tyrosinase-positive oculocutaneous albinism | 3 | Oct 2, 2024 |
| Tyrosinemia type I | 2 | Mar 1, 2024 |
| UBR5-associated neurodevelopmental disorder | 1 | Mar 4, 2025 |
| UNC13A-associated disorder | 1 | Feb 2, 2024 |
| UNC13A-associated neurodevelopmental disorder | 1 | Nov 14, 2025 |
| UNC79-associated neurodevelopmental disorder | 1 | Mar 4, 2025 |
| UNC79-associated seizure disorder | 1 | Jan 6, 2026 |
| Ullrich congenital muscular dystrophy 1A | 3 | Apr 8, 2025 |
| Ullrich congenital muscular dystrophy 1B | 3 | Mar 6, 2026 |
| Uncombable hair syndrome 1 | 1 | Jan 6, 2026 |
| Usher syndrome type 1 | 5 | Feb 2, 2024 |
| Usher syndrome type 1D | 2 | Apr 5, 2024 |
| Usher syndrome type 2A | 19 | Aug 8, 2025 |
| Usher syndrome type 3B | 1 | Nov 14, 2025 |
| Usmani-Riazuddin syndrome, autosomal dominant | 1 | Nov 14, 2025 |
| Uveal coloboma-cleft lip and palate-intellectual disability | 2 | Dec 5, 2025 |
| VPS13A-related neurodegenerative disease | 2 | Mar 2, 2022 |
| Van Maldergem syndrome 1 | 1 | Feb 2, 2024 |
| Van der Woude syndrome 1 | 2 | Mar 4, 2025 |
| Vanishing white matter disease | 4 | Oct 12, 2020 |
| Velocardiofacial syndrome | 1 | Sep 22, 2023 |
| Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | 1 | Aug 16, 2023 |
| Ventricular fibrillation | 1 | Feb 7, 2023 |
| Ventricular septal defect | 1 | Sep 29, 2022 |
| Vertebral hypersegmentation and orofacial anomalies | 1 | Mar 6, 2026 |
| Vertebral, cardiac, renal, and limb defects syndrome 1 | 2 | Sep 29, 2022 |
| Vertebral, cardiac, renal, and limb defects syndrome 2 | 2 | Apr 5, 2024 |
| Ververi-Brady syndrome | 35 | Jun 4, 2025 |
| Ververi-Brady syndrome 1 | 2 | Mar 6, 2026 |
| Very long chain acyl-CoA dehydrogenase deficiency | 2 | Oct 2, 2024 |
| Vesicoureteral reflux 2 | 1 | Oct 4, 2021 |
| Vissers-Bodmer syndrome | 4 | Jan 6, 2026 |
| Vitamin D-dependent rickets, type 1A | 2 | Oct 2, 2024 |
| Vitelliform macular dystrophy 1 | 1 | Dec 8, 2023 |
| Vitelliform macular dystrophy 2 | 3 | Mar 6, 2026 |
| Vitelliform macular dystrophy 3 | 1 | Dec 28, 2021 |
| Vitelliform macular dystrophy 5 | 2 | Nov 1, 2023 |
| Vomiting | 1 | Jan 31, 2022 |
| Waardenburg syndrome type 1 | 4 | Oct 2, 2024 |
| Waardenburg syndrome type 2A | 2 | Oct 12, 2020 |
| Waardenburg syndrome type 2E | 1 | Feb 6, 2024 |
| Waardenburg syndrome type 4C | 2 | Oct 12, 2020 |
| Wagner disease | 1 | Oct 2, 2024 |
| Warburg micro syndrome 2 | 1 | Sep 23, 2021 |
| Warburg micro syndrome 4 | 1 | Apr 20, 2020 |
| Warts, hypogammaglobulinemia, infections, and myelokathexis | 1 | Apr 20, 2020 |
| Weaver syndrome | 3 | Sep 23, 2021 |
| Weiss-Kruszka syndrome | 4 | Sep 16, 2025 |
| Werner syndrome | 3 | Oct 2, 2024 |
| Wide mouth | 1 | Dec 28, 2021 |
| Wieacker-Wolff syndrome | 1 | Oct 12, 2020 |
| Wiedemann-Steiner syndrome | 11 | Mar 6, 2026 |
| Wilson disease | 11 | Mar 6, 2026 |
| Wiskott-Aldrich syndrome | 2 | Sep 23, 2021 |
| Wolfram syndrome 1 | 4 | Mar 4, 2025 |
| Wolfram-like syndrome | 2 | Mar 1, 2024 |
| Woodhouse-Sakati syndrome | 1 | Dec 5, 2025 |
| Worth disease | 1 | Sep 23, 2021 |
| Wrinkly skin syndrome | 1 | Oct 12, 2020 |
| X-linked Alport syndrome | 13 | Mar 6, 2026 |
| X-linked agammaglobulinemia | 3 | Jun 4, 2025 |
| X-linked chondrodysplasia punctata 1 | 2 | Apr 5, 2024 |
| X-linked complicated corpus callosum dysgenesis | 1 | Mar 6, 2026 |
| X-linked cone-rod dystrophy 1 | 1 | Nov 14, 2025 |
| X-linked cone-rod dystrophy 3 | 1 | Jul 8, 2025 |
| X-linked distal spinal muscular atrophy type 3 | 1 | Apr 29, 2022 |
| X-linked hydrocephalus syndrome | 1 | Oct 12, 2020 |
| X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | 1 | Apr 20, 2020 |
| X-linked intellectual disability Cabezas type | 5 | Apr 8, 2025 |
| X-linked intellectual disability with marfanoid habitus | 4 | Jun 3, 2022 |
| X-linked intellectual disability, Cantagrel type | 11 | Nov 14, 2025 |
| X-linked intellectual disability, Stocco dos Santos type | 1 | Oct 12, 2020 |
| X-linked intellectual disability-cerebellar hypoplasia syndrome | 3 | Dec 19, 2022 |
| X-linked intellectual disability-psychosis-macroorchidism syndrome | 2 | Aug 16, 2023 |
| X-linked lymphoproliferative disease due to XIAP deficiency | 2 | Dec 12, 2024 |
| X-linked mixed hearing loss with perilymphatic gusher | 1 | Jun 3, 2022 |
| X-linked myopathy with postural muscle atrophy | 2 | Oct 2, 2024 |
| X-linked severe congenital neutropenia | 1 | Oct 12, 2020 |
| X-linked sideroblastic anemia with ataxia | 1 | Apr 20, 2020 |
| XPO1-associated Neurodevelopmental Disorder | 2 | Mar 6, 2026 |
| YWHAE-associated disorder | 1 | Apr 5, 2024 |
| ZFHX3-associated neurodevelopmental disorder | 1 | Dec 12, 2024 |
| ZFHX4-associated neurodevelopmental disorder | 1 | Jun 4, 2025 |
| ZMYND8-associated neurodevelopmental disorder | 1 | Mar 1, 2024 |
| ZNRF3-associated neurodevelopmental disorder | 1 | Jan 10, 2025 |
| ZTTK syndrome | 7 | Jan 10, 2025 |
| Zaki syndrome | 2 | Oct 2, 2024 |
| Zimmermann-Laband syndrome 1 | 4 | Oct 10, 2025 |
| alpha Thalassemia | 1 | Sep 22, 2023 |
| beta Thalassemia | 1 | Sep 23, 2021 |
| not provided | 4 | Jan 27, 2021 |
| recessive ARS-related multisystem disease | 1 | Oct 8, 2020 |
| von Willebrand disease type 1 | 5 | Mar 6, 2026 |
| von Willebrand disease type 2 | 2 | Jan 10, 2025 |
| von Willebrand disease type 3 | 1 | Oct 10, 2025 |
