| 15q11q13 microduplication syndrome | 1 | Jul 2, 2024 |
| 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia | 1 | Aug 21, 2017 |
| 3 beta-Hydroxysteroid dehydrogenase deficiency | 1 | Jan 10, 2023 |
| 3-Methylglutaconic aciduria type 2 | 1 | Aug 25, 2017 |
| 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 1 | Aug 22, 2022 |
| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 1 | Jul 5, 2017 |
| 3M syndrome 1 | 1 | Jul 13, 2020 |
| 3M syndrome 2 | 1 | Feb 24, 2023 |
| 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 2 | Apr 9, 2024 |
| ADULT syndrome | 2 | Nov 26, 2024 |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 1 | Jun 3, 2024 |
| Abdominal obesity-metabolic syndrome 3 | 1 | Sep 8, 2025 |
| Abnormal sperm morphology | 2 | Mar 23, 2023 |
| Achondrogenesis, type IA | 1 | Nov 17, 2022 |
| Achondrogenesis, type IB | 1 | Feb 20, 2026 |
| Achromatopsia 3 | 1 | Feb 5, 2020 |
| Achromatopsia 6 | 1 | May 17, 2021 |
| Acrocephalosyndactyly type I | 1 | Nov 19, 2022 |
| Acromesomelic dysplasia 1, Maroteaux type | 1 | Nov 9, 2024 |
| Actin accumulation myopathy | 1 | Jan 19, 2017 |
| Adrenoleukodystrophy | 2 | Aug 14, 2020 |
| Age related macular degeneration 2 | 1 | Sep 29, 2025 |
| Aicardi-Goutieres syndrome 3 | 1 | Sep 17, 2022 |
| Aldosterone-producing adenoma with seizures and neurological abnormalities | 1 | Jun 11, 2022 |
| Alopecia universalis congenita | 2 | Apr 11, 2025 |
| Alstrom syndrome | 3 | Apr 27, 2026 |
| Alzheimer disease 3 | 2 | Sep 12, 2019 |
| Alzheimer disease type 1 | 1 | Mar 3, 2022 |
| Amyloidosis, hereditary systemic 1 | 1 | Jun 7, 2025 |
| Amyotrophic lateral sclerosis type 1 | 1 | Apr 23, 2025 |
| Amyotrophic lateral sclerosis type 2, juvenile | 1 | Dec 17, 2018 |
| Amyotrophic lateral sclerosis type 5 | 1 | Apr 27, 2026 |
| Anauxetic dysplasia 2 | 1 | Sep 7, 2022 |
| Androgen resistance syndrome | 1 | Aug 27, 2020 |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 3 | Jul 1, 2024 |
| Angelman syndrome | 1 | Mar 24, 2023 |
| Anterior segment dysgenesis 6 | 1 | Nov 17, 2023 |
| Aortic aneurysm, familial thoracic 10 | 1 | Apr 3, 2023 |
| Arginase deficiency | 1 | Apr 26, 2021 |
| Argininosuccinate lyase deficiency | 1 | Jun 19, 2020 |
| Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities | 1 | Apr 23, 2025 |
| Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum | 1 | Mar 23, 2023 |
| Arthrogryposis multiplex congenita 5 | 1 | Mar 24, 2023 |
| Arthrogryposis multiplex congenita 6 | 1 | Nov 17, 2022 |
| Arthrogryposis, distal, type 2B2 | 2 | Mar 14, 2024 |
| Asphyxiating thoracic dystrophy 3 | 5 | Aug 7, 2023 |
| Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | 1 | Jun 26, 2019 |
| Ataxia-hypogonadism-choroidal dystrophy syndrome | 1 | Nov 9, 2024 |
| Ataxia-telangiectasia syndrome | 4 | Jan 9, 2024 |
| Atelosteogenesis type I | 1 | Nov 18, 2024 |
| Atelosteogenesis type III | 1 | Nov 18, 2024 |
| Atrial conduction disease | 1 | Nov 10, 2023 |
| Atrial fibrillation, familial, 10 | 1 | Oct 14, 2024 |
| Attention deficit-hyperactivity disorder 8 | 1 | Sep 12, 2023 |
| Atypical hemolytic-uremic syndrome with C3 anomaly | 1 | Aug 1, 2023 |
| Auditory neuropathy-optic atrophy syndrome | 1 | May 1, 2026 |
| Autism | 1 | Sep 24, 2022 |
| Autism and apraxia | 1 | Jan 12, 2024 |
| Autism spectrum disorder | 1 | Dec 6, 2021 |
| Autism spectrum disorder due to AUTS2 deficiency | 1 | Dec 15, 2022 |
| Autism, susceptibility to, 15 | 2 | Dec 17, 2022 |
| Autism, susceptibility to, 16 | 1 | Sep 12, 2023 |
| Autism, susceptibility to, X-linked 1 | 1 | Dec 22, 2022 |
| Autism, susceptibility to, X-linked 3 | 1 | Mar 3, 2022 |
| Autosomal dominant Alport syndrome | 1 | Feb 12, 2025 |
| Autosomal dominant Parkinson disease 1 | 1 | Nov 23, 2023 |
| Autosomal dominant auditory neuropathy 1 | 1 | Aug 8, 2025 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 1 | Sep 19, 2022 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 1 | Mar 18, 2023 |
| Autosomal dominant limb-girdle muscular dystrophy type 1F | 1 | Nov 17, 2022 |
| Autosomal dominant nonsyndromic hearing loss 11 | 1 | Aug 17, 2022 |
| Autosomal dominant nonsyndromic hearing loss 13 | 1 | Sep 7, 2022 |
| Autosomal dominant nonsyndromic hearing loss 25 | 1 | Jun 30, 2020 |
| Autosomal recessive Alport syndrome | 1 | Feb 12, 2025 |
| Autosomal recessive Parkinson disease 14 | 1 | Dec 30, 2019 |
| Autosomal recessive congenital ichthyosis 1 | 3 | Nov 15, 2022 |
| Autosomal recessive congenital ichthyosis 4A | 2 | Aug 27, 2018 |
| Autosomal recessive congenital ichthyosis 4B | 2 | Dec 19, 2022 |
| Autosomal recessive congenital ichthyosis 6 | 1 | Aug 17, 2022 |
| Autosomal recessive juvenile Parkinson disease 2 | 1 | Feb 5, 2020 |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 7 | Nov 16, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 9 | Apr 3, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2D | 1 | Sep 7, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2E | 2 | Nov 19, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2G | 1 | Aug 8, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 1 | Aug 9, 2018 |
| Autosomal recessive limb-girdle muscular dystrophy type 2Q | 1 | Apr 3, 2023 |
| Autosomal recessive nonsyndromic hearing loss 12 | 2 | Nov 16, 2022 |
| Autosomal recessive nonsyndromic hearing loss 1A | 2 | Jul 1, 2023 |
| Autosomal recessive nonsyndromic hearing loss 2 | 1 | Feb 23, 2022 |
| Autosomal recessive nonsyndromic hearing loss 23 | 1 | Jan 3, 2023 |
| Autosomal recessive nonsyndromic hearing loss 36 | 1 | Mar 2, 2022 |
| Autosomal recessive nonsyndromic hearing loss 4 | 3 | Jun 6, 2025 |
| Autosomal recessive nonsyndromic hearing loss 48 | 1 | Nov 16, 2022 |
| Autosomal recessive nonsyndromic hearing loss 59 | 1 | Nov 11, 2023 |
| Autosomal recessive nonsyndromic hearing loss 63 | 1 | Jul 7, 2017 |
| Autosomal recessive nonsyndromic hearing loss 66 | 1 | Mar 2, 2022 |
| Autosomal recessive nonsyndromic hearing loss 79 | 1 | Apr 13, 2024 |
| Autosomal recessive nonsyndromic hearing loss 8 | 1 | Dec 23, 2024 |
| Autosomal recessive nonsyndromic hearing loss 84B | 1 | Aug 17, 2022 |
| Autosomal recessive osteopetrosis 4 | 2 | Jun 30, 2018 |
| Autosomal recessive osteopetrosis 8 | 1 | Nov 15, 2024 |
| Autosomal recessive spinocerebellar ataxia 13 | 1 | Mar 12, 2020 |
| Autosomal recessive spinocerebellar ataxia 20 | 1 | Aug 12, 2024 |
| Baraitser-Winter syndrome 1 | 1 | Feb 17, 2024 |
| Baraitser-winter syndrome 2 | 1 | Nov 16, 2022 |
| Bardet-Biedl syndrome 10 | 2 | Jan 21, 2023 |
| Bartter disease type 2 | 1 | Feb 3, 2020 |
| Becker muscular dystrophy | 4 | Feb 24, 2026 |
| Benign recurrent intrahepatic cholestasis type 2 | 4 | Mar 27, 2024 |
| Bethlem myopathy 1A | 4 | Apr 23, 2025 |
| Bilateral frontoparietal polymicrogyria | 2 | Jan 25, 2019 |
| Birt-Hogg-Dube syndrome 2 | 2 | Feb 11, 2026 |
| Blepharophimosis - intellectual disability syndrome, MKB type | 1 | Dec 9, 2021 |
| Brain small vessel disease 1 with or without ocular anomalies | 1 | Nov 17, 2022 |
| Branchiootorenal syndrome 1 | 1 | Dec 1, 2023 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 3 | Apr 23, 2024 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 4 | Jul 10, 2026 |
| Bronchiectasis with or without elevated sweat chloride 1 | 1 | Sep 19, 2024 |
| Brugada syndrome 1 | 1 | Oct 14, 2024 |
| CEDNIK syndrome | 1 | May 30, 2026 |
| CHEK2-related cancer predisposition | 1 | Sep 19, 2024 |
| Capillary malformation-arteriovenous malformation 2 | 1 | Sep 14, 2023 |
| Cardiofaciocutaneous syndrome 1 | 2 | May 18, 2023 |
| Cardiomyopathy, familial hypertrophic, 28 | 1 | Mar 26, 2024 |
| Cataract 3 multiple types | 1 | Jul 3, 2025 |
| Cataract 6 multiple types | 2 | Jul 23, 2024 |
| Central core myopathy | 4 | Feb 27, 2025 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 | 1 | Sep 10, 2018 |
| Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 1 | Nov 9, 2024 |
| Cerebral amyloid angiopathy, APP-related | 1 | Apr 23, 2025 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 1 | Nov 16, 2022 |
| Cerebral cavernous malformation | 1 | Feb 24, 2022 |
| Ceroid lipofuscinosis, neuronal, 6A | 2 | Apr 17, 2023 |
| Charcot-Marie-Tooth disease axonal type 2F | 1 | Dec 12, 2019 |
| Charcot-Marie-Tooth disease axonal type 2K | 1 | Nov 18, 2024 |
| Charcot-Marie-Tooth disease axonal type 2S | 2 | Jul 10, 2023 |
| Charcot-Marie-Tooth disease axonal type 2X | 2 | Mar 2, 2024 |
| Charcot-Marie-Tooth disease axonal type 2Z | 1 | May 18, 2018 |
| Charcot-Marie-Tooth disease dominant intermediate D | 1 | Jul 24, 2024 |
| Charcot-Marie-Tooth disease recessive intermediate A | 1 | Nov 18, 2024 |
| Charcot-Marie-Tooth disease type 1E | 1 | Apr 9, 2025 |
| Charcot-Marie-Tooth disease type 2A1 | 2 | Feb 27, 2025 |
| Charcot-Marie-Tooth disease type 2A2 | 1 | Aug 8, 2025 |
| Charcot-Marie-Tooth disease type 4A | 1 | Nov 18, 2024 |
| Charcot-Marie-Tooth disease type 4B1 | 1 | Dec 15, 2022 |
| Charcot-Marie-Tooth disease type 4C | 1 | Nov 15, 2024 |
| Charcot-Marie-tooth disease, axonal, type 2DD | 1 | Jul 24, 2024 |
| Chilton-Okur-Chung neurodevelopmental syndrome | 2 | May 30, 2026 |
| Cholestanol storage disease | 2 | Nov 16, 2024 |
| Chopra-Amiel-Gordon syndrome | 2 | Jul 8, 2023 |
| Chromosome 15q11.2 deletion syndrome | 1 | Nov 4, 2020 |
| Ciliary dyskinesia, primary, 40 | 2 | Apr 7, 2023 |
| Citrullinemia type I | 1 | Jul 24, 2018 |
| Coenzyme Q10 deficiency, primary, 1 | 1 | Mar 30, 2026 |
| Coffin-Siris syndrome 1 | 1 | Mar 20, 2019 |
| Coffin-Siris syndrome 12 | 1 | Feb 21, 2023 |
| Coffin-Siris syndrome 6 | 2 | Feb 24, 2023 |
| Cohen syndrome | 1 | Dec 6, 2022 |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 16 | Jul 10, 2026 |
| Colorectal cancer, hereditary nonpolyposis, type 7 | 1 | Apr 14, 2023 |
| Colorectal cancer, susceptibility to, 12 | 1 | Jul 17, 2025 |
| Combined PSAP deficiency | 1 | Oct 13, 2022 |
| Combined immunodeficiency, X-linked | 2 | Jun 18, 2024 |
| Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | 1 | Sep 14, 2022 |
| Combined oxidative phosphorylation defect type 11 | 1 | Mar 6, 2024 |
| Combined oxidative phosphorylation defect type 14 | 1 | Mar 30, 2026 |
| Combined oxidative phosphorylation defect type 24 | 2 | Nov 18, 2024 |
| Complex cortical dysplasia with other brain malformations 3 | 1 | Apr 19, 2018 |
| Complex cortical dysplasia with other brain malformations 7 | 2 | Dec 17, 2018 |
| Congenital adrenal hypoplasia, X-linked | 1 | Oct 5, 2023 |
| Congenital contractural arachnodactyly | 1 | May 18, 2018 |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | 1 | Nov 9, 2024 |
| Congenital diarrhea 6 | 1 | Jul 1, 2024 |
| Congenital disorder of deglycosylation 1 | 1 | Jul 2, 2024 |
| Congenital heart defects and skeletal malformations syndrome | 1 | Nov 3, 2023 |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 1 | Jun 30, 2018 |
| Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome | 1 | Aug 17, 2017 |
| Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | 1 | May 30, 2026 |
| Congenital muscular dystrophy due to LMNA mutation | 2 | Apr 27, 2026 |
| Congenital muscular dystrophy with cataracts and intellectual disability | 1 | Oct 15, 2022 |
| Congenital muscular hypertrophy-cerebral syndrome | 1 | Mar 18, 2019 |
| Congenital myasthenic syndrome 10 | 2 | May 24, 2018 |
| Congenital myasthenic syndrome 3A | 1 | Feb 24, 2022 |
| Congenital myasthenic syndrome 4A | 2 | Nov 18, 2024 |
| Congenital myasthenic syndrome 4B | 1 | Nov 18, 2024 |
| Congenital myasthenic syndrome 4C | 1 | Nov 18, 2024 |
| Congenital myasthenic syndrome 8 | 1 | Jun 25, 2018 |
| Congenital myopathy 18 | 1 | May 30, 2026 |
| Cornelia de Lange syndrome 1 | 3 | Oct 30, 2021 |
| Cornelia de Lange syndrome 5 | 1 | Oct 30, 2021 |
| Creatine transporter deficiency | 1 | Aug 8, 2025 |
| Crigler-Najjar syndrome type 1 | 1 | Mar 4, 2019 |
| Crouzon syndrome | 1 | Aug 26, 2019 |
| Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | 1 | May 25, 2019 |
| Cystic fibrosis | 4 | Jul 3, 2025 |
| D-6618 | 1 | Aug 4, 2022 |
| D-Glyceric aciduria | 1 | May 18, 2024 |
| DEGCAGS syndrome | 2 | Jun 10, 2025 |
| DYRK1A-related intellectual disability syndrome | 1 | Jun 5, 2026 |
| Deficiency of acetyl-CoA acetyltransferase | 1 | Sep 14, 2017 |
| Deficiency of hydroxymethylglutaryl-CoA lyase | 1 | Jan 21, 2023 |
| Deficiency of iodide peroxidase | 1 | Aug 22, 2022 |
| Deficiency of steroid 11-beta-monooxygenase | 1 | Oct 19, 2022 |
| Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | 1 | Mar 24, 2023 |
| Dejerine-Sottas disease | 1 | Oct 15, 2022 |
| Desmin-related myofibrillar myopathy | 1 | May 14, 2024 |
| Desmoid disease, hereditary | 1 | Nov 19, 2022 |
| Developmental and epileptic encephalopathy 94 | 1 | Sep 24, 2022 |
| Developmental and epileptic encephalopathy, 11 | 5 | Jun 10, 2025 |
| Developmental and epileptic encephalopathy, 18 | 1 | Jan 16, 2018 |
| Developmental and epileptic encephalopathy, 24 | 1 | Nov 18, 2024 |
| Developmental and epileptic encephalopathy, 28 | 1 | Sep 20, 2024 |
| Developmental and epileptic encephalopathy, 4 | 1 | Dec 5, 2022 |
| Developmental and epileptic encephalopathy, 42 | 4 | Nov 26, 2024 |
| Developmental and epileptic encephalopathy, 43 | 1 | May 27, 2023 |
| Developmental and epileptic encephalopathy, 53 | 1 | Aug 14, 2020 |
| Developmental and epileptic encephalopathy, 66 | 1 | Nov 24, 2020 |
| Developmental and epileptic encephalopathy, 67 | 1 | Jul 17, 2023 |
| Developmental and epileptic encephalopathy, 69 | 1 | Feb 23, 2022 |
| Developmental and epileptic encephalopathy, 7 | 1 | Dec 16, 2022 |
| Developmental and epileptic encephalopathy, 83 | 1 | Sep 6, 2022 |
| Developmental delay with or without dysmorphic facies and autism | 1 | Jun 10, 2025 |
| Developmental delay with or without intellectual impairment or behavioral abnormalities | 1 | May 19, 2023 |
| Developmental delay with variable intellectual impairment and behavioral abnormalities | 3 | Apr 3, 2025 |
| Developmental delay, behavioral abnormalities, and neuropsychiatric disorders | 1 | Feb 12, 2025 |
| Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities | 1 | Mar 29, 2024 |
| Developmental delay, impaired speech, and behavioral abnormalities | 1 | Aug 11, 2025 |
| Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | 1 | Sep 8, 2025 |
| Diabetes mellitus type 1 | 2 | Apr 29, 2025 |
| Diamond-Blackfan anemia 1 | 2 | Mar 21, 2019 |
| Diaphyseal dysplasia | 1 | Jun 18, 2025 |
| Dias-Logan syndrome | 1 | Jul 24, 2023 |
| Dilated cardiomyopathy 1A | 1 | Nov 28, 2025 |
| Dilated cardiomyopathy 1D | 2 | Apr 8, 2025 |
| Dilated cardiomyopathy 1DD | 1 | May 14, 2024 |
| Dilated cardiomyopathy 1E | 1 | Oct 14, 2024 |
| Dilated cardiomyopathy 1G | 1 | Apr 23, 2025 |
| Dilated cardiomyopathy 1O | 1 | Apr 23, 2025 |
| Dilated cardiomyopathy 2A | 1 | Jun 30, 2018 |
| Dopa-responsive dystonia due to sepiapterin reductase deficiency | 1 | Sep 11, 2021 |
| Duchenne muscular dystrophy | 8 | Feb 24, 2026 |
| Dyskeratosis congenita, autosomal recessive 5 | 1 | Jun 10, 2020 |
| Dyskinesia with orofacial involvement, autosomal dominant | 1 | Jun 1, 2020 |
| Dystonia 30 | 1 | Dec 19, 2022 |
| Early-onset generalized limb-onset dystonia | 1 | Apr 23, 2025 |
| Early-onset myopathy with fatal cardiomyopathy | 1 | Dec 7, 2022 |
| Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | 1 | Nov 26, 2024 |
| Ehlers-Danlos syndrome due to tenascin-X deficiency | 1 | Jan 2, 2020 |
| Ehlers-Danlos syndrome progeroid type | 1 | Aug 14, 2020 |
| Ehlers-Danlos syndrome, classic type, 1 | 1 | Sep 19, 2022 |
| Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 1 | Dec 15, 2015 |
| Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 1 | Feb 24, 2022 |
| Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 1 | Feb 13, 2025 |
| Epidermolysis bullosa pruriginosa | 1 | Nov 16, 2022 |
| Epidermolysis bullosa simplex 2B, generalized intermediate | 1 | Sep 7, 2022 |
| Epidermolysis bullosa simplex, Ogna type | 1 | Feb 27, 2025 |
| Epilepsy with myoclonic atonic seizures | 1 | Jan 3, 2026 |
| Epilepsy, familial focal, with variable foci 1 | 3 | May 8, 2023 |
| Epilepsy, familial focal, with variable foci 2 | 1 | Sep 11, 2021 |
| Epilepsy, familial focal, with variable foci 3 | 1 | Feb 24, 2022 |
| Epilepsy, idiopathic generalized, susceptibility to, 11 | 1 | Oct 19, 2021 |
| Epilepsy, idiopathic generalized, susceptibility to, 15 | 1 | Dec 9, 2021 |
| Episodic ataxia type 2 | 1 | Nov 26, 2024 |
| Ethylmalonic encephalopathy | 2 | Jan 3, 2019 |
| Exudative vitreoretinopathy 4 | 1 | Jun 20, 2019 |
| FOXG1 disorder | 1 | Mar 5, 2022 |
| Fabry disease | 3 | Apr 28, 2026 |
| Familial adenomatous polyposis 1 | 4 | Jul 17, 2025 |
| Familial adenomatous polyposis 2 | 2 | Jan 25, 2023 |
| Familial cancer of breast | 6 | Jan 3, 2026 |
| Familial cold autoinflammatory syndrome 4 | 1 | Dec 15, 2022 |
| Familial hemophagocytic lymphohistiocytosis 2 | 1 | Jul 13, 2018 |
| Familial juvenile hyperuricemic nephropathy type 1 | 1 | Feb 24, 2022 |
| Fanconi-Bickel syndrome | 1 | Apr 15, 2023 |
| Febrile seizures, familial, 4 | 1 | Jun 3, 2026 |
| Fetal akinesia deformation sequence 2 | 1 | Nov 17, 2022 |
| Fetal akinesia deformation sequence 3 | 1 | Nov 18, 2024 |
| Fibrochondrogenesis 2 | 1 | Nov 19, 2024 |
| Finnish congenital nephrotic syndrome | 2 | Nov 17, 2023 |
| Floating-Harbor syndrome | 1 | Oct 15, 2022 |
| Frasier syndrome | 1 | Jan 4, 2019 |
| Frontotemporal dementia | 2 | Jun 3, 2026 |
| Fucosidosis | 1 | Nov 17, 2022 |
| GM1 gangliosidosis type 2 | 2 | Aug 26, 2019 |
| GNE myopathy | 4 | Jul 13, 2020 |
| GNPTG-mucolipidosis | 1 | Mar 5, 2022 |
| GTP cyclohydrolase I deficiency | 1 | Jun 20, 2019 |
| Gabriele de Vries syndrome | 1 | Oct 19, 2022 |
| Galactosylceramide beta-galactosidase deficiency | 13 | May 1, 2026 |
| Gaucher disease type I | 24 | Apr 28, 2026 |
| Gaucher disease type II | 10 | Apr 11, 2026 |
| Gaucher disease type III | 1 | Jan 23, 2017 |
| Geleophysic dysplasia 1 | 1 | May 17, 2018 |
| Geleophysic dysplasia 2 | 1 | May 2, 2026 |
| Generalized epilepsy with febrile seizures plus, type 10 | 1 | Dec 22, 2022 |
| Generalized epilepsy with febrile seizures plus, type 2 | 2 | Nov 26, 2024 |
| Generalized epilepsy with febrile seizures plus, type 7 | 1 | Jun 19, 2019 |
| Gingival fibromatosis-hypertrichosis syndrome | 1 | Oct 23, 2024 |
| Glanzmann thrombasthenia 2 | 1 | Mar 27, 2024 |
| Global developmental delay with or without impaired intellectual development | 2 | May 30, 2026 |
| Global developmental delay with speech and behavioral abnormalities | 3 | Jun 1, 2024 |
| Glomerulopathy with fibronectin deposits 2 | 1 | Aug 1, 2023 |
| Glucocorticoid deficiency with achalasia | 1 | Mar 20, 2019 |
| Glucose-6-phosphate transport defect | 1 | Feb 23, 2022 |
| Glutaric aciduria, type 1 | 3 | Aug 27, 2019 |
| Glycine encephalopathy 1 | 1 | Oct 25, 2025 |
| Glycogen storage disease IXa1 | 2 | Mar 2, 2023 |
| Glycogen storage disease IXb | 1 | Apr 6, 2020 |
| Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2 | Mar 21, 2019 |
| Glycogen storage disease type III | 1 | Jun 7, 2025 |
| Glycogen storage disease, type II | 21 | Feb 4, 2026 |
| Grebe syndrome | 1 | Dec 8, 2022 |
| Griscelli syndrome type 2 | 1 | Sep 11, 2018 |
| HSD10 mitochondrial disease | 1 | Dec 9, 2021 |
| Hearing loss, X-linked 6 | 1 | Jul 3, 2025 |
| Hearing loss, autosomal dominant 71 | 2 | Nov 11, 2023 |
| Hearing loss, autosomal recessive 112 | 1 | Nov 17, 2022 |
| Hemochromatosis type 1 | 1 | Oct 15, 2022 |
| Hereditary diffuse gastric adenocarcinoma | 1 | Feb 5, 2020 |
| Hereditary factor VIII deficiency disease | 1 | Sep 8, 2022 |
| Hereditary nonpolyposis colorectal carcinoma | 1 | Feb 25, 2022 |
| Hereditary spastic paraplegia 11 | 5 | Mar 27, 2023 |
| Hereditary spastic paraplegia 17 | 1 | Oct 24, 2017 |
| Hereditary spastic paraplegia 2 | 1 | Aug 2, 2017 |
| Hereditary spastic paraplegia 28 | 2 | Feb 25, 2022 |
| Hereditary spastic paraplegia 30 | 1 | Sep 8, 2025 |
| Hereditary spastic paraplegia 35 | 2 | Apr 13, 2024 |
| Hereditary spastic paraplegia 4 | 1 | Aug 28, 2018 |
| Hereditary spastic paraplegia 47 | 1 | Sep 7, 2022 |
| Hereditary spastic paraplegia 63 | 1 | Sep 7, 2022 |
| Hereditary spastic paraplegia 7 | 1 | Apr 27, 2026 |
| Hereditary spastic paraplegia 73 | 1 | Aug 22, 2023 |
| Hereditary spherocytosis type 2 | 1 | Sep 29, 2020 |
| Heterotaxy, visceral, 1, X-linked | 1 | Sep 26, 2022 |
| Hirschsprung disease, susceptibility to, 1 | 1 | Mar 18, 2020 |
| Histiocytic medullary reticulosis | 2 | Sep 27, 2022 |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 2 | Oct 2, 2020 |
| Hurler syndrome | 17 | Apr 28, 2026 |
| Hydrocephalus, nonsyndromic, autosomal recessive 1 | 2 | May 30, 2020 |
| Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections | 1 | May 1, 2026 |
| Hypercholesterolemia, familial, 1 | 2 | Aug 27, 2024 |
| Hyperinsulinemic hypoglycemia, familial, 1 | 2 | Nov 17, 2022 |
| Hyperinsulinism-hyperammonemia syndrome | 1 | Jul 4, 2023 |
| Hyperlipidemia, familial combined, LPL related | 1 | Feb 21, 2026 |
| Hyperlipoproteinemia, type I | 1 | May 1, 2026 |
| Hyperprolinemia type 2 | 2 | Dec 28, 2022 |
| Hypertrophic cardiomyopathy 1 | 1 | May 8, 2023 |
| Hypertrophic cardiomyopathy 2 | 1 | Apr 8, 2025 |
| Hypertrophic cardiomyopathy 26 | 1 | Sep 14, 2017 |
| Hypochondroplasia | 1 | Nov 17, 2022 |
| Hypohidrotic X-linked ectodermal dysplasia | 1 | Aug 29, 2019 |
| Hypokalemic periodic paralysis, type 1 | 1 | Jun 28, 2018 |
| Hypokalemic periodic paralysis, type 2 | 1 | Apr 1, 2024 |
| Hypomyelinating leukodystrophy 11 | 1 | Jun 10, 2023 |
| Hypomyelinating leukodystrophy 9 | 1 | Mar 24, 2023 |
| Hypoparathyroidism, familial isolated, 2 | 1 | Dec 23, 2024 |
| Hypospadias 1, X-linked | 1 | May 18, 2018 |
| Hypotrichosis 8 | 1 | Dec 13, 2022 |
| Ichthyosis vulgaris | 1 | Jul 3, 2025 |
| Immunodeficiency 14 | 1 | Jun 27, 2018 |
| Immunodeficiency 23 | 1 | Sep 28, 2022 |
| Immunodeficiency 92 | 1 | Jul 29, 2024 |
| Immunodeficiency, common variable, 7 | 2 | Feb 24, 2022 |
| Immunoskeletal dysplasia with neurodevelopmental abnormalities | 1 | Mar 21, 2019 |
| Inclusion body myopathy and brain white matter abnormalities | 1 | May 30, 2026 |
| Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 | 1 | Apr 22, 2022 |
| Infantile GM1 gangliosidosis | 18 | Feb 5, 2026 |
| Infantile cortical hyperostosis | 1 | Sep 7, 2022 |
| Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 1 | Nov 2, 2023 |
| Intellectual developmental disorder 59 | 1 | Dec 3, 2025 |
| Intellectual developmental disorder 61 | 1 | Dec 15, 2022 |
| Intellectual developmental disorder and retinitis pigmentosa; IDDRP | 1 | Nov 18, 2022 |
| Intellectual developmental disorder with autism and speech delay | 3 | Jan 31, 2025 |
| Intellectual developmental disorder with autistic features and language delay, with or without seizures | 1 | Feb 11, 2026 |
| Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures | 1 | Feb 27, 2025 |
| Intellectual developmental disorder with ocular anomalies and distinctive facial features | 2 | Apr 23, 2025 |
| Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | 1 | Apr 22, 2022 |
| Intellectual developmental disorder with or without peripheral neuropathy | 1 | Jan 3, 2025 |
| Intellectual developmental disorder with paroxysmal dyskinesia or seizures | 2 | Nov 24, 2023 |
| Intellectual developmental disorder with seizures and language delay | 2 | Jan 21, 2023 |
| Intellectual developmental disorder, X-linked 108 | 1 | Oct 19, 2021 |
| Intellectual developmental disorder, X-linked 112 | 1 | Aug 27, 2024 |
| Intellectual developmental disorder, X-linked, syndromic, Pilorge type | 1 | Oct 23, 2024 |
| Intellectual developmental disorder, autosomal dominant 64 | 3 | Nov 24, 2025 |
| Intellectual developmental disorder, autosomal dominant 70 | 2 | Mar 2, 2024 |
| Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities | 2 | Feb 21, 2026 |
| Intellectual developmental disorder, autosomal dominant 72 | 2 | Feb 13, 2025 |
| Intellectual disability, X-linked 1 | 1 | Aug 11, 2025 |
| Intellectual disability, X-linked 93 | 1 | Apr 23, 2025 |
| Intellectual disability, X-linked 99 | 1 | Feb 22, 2022 |
| Intellectual disability, X-linked syndromic, Turner type | 2 | Sep 23, 2022 |
| Intellectual disability, X-linked, syndromic, 35 | 1 | Mar 12, 2020 |
| Intellectual disability, autosomal dominant 11 | 1 | Sep 23, 2022 |
| Intellectual disability, autosomal dominant 14 | 1 | Jun 3, 2020 |
| Intellectual disability, autosomal dominant 24 | 2 | Apr 2, 2025 |
| Intellectual disability, autosomal dominant 29 | 1 | Jun 8, 2023 |
| Intellectual disability, autosomal dominant 41 | 1 | Oct 19, 2021 |
| Intellectual disability, autosomal dominant 45 | 4 | Feb 13, 2025 |
| Intellectual disability, autosomal dominant 46 | 2 | May 30, 2026 |
| Intellectual disability, autosomal dominant 47 | 1 | Sep 26, 2022 |
| Intellectual disability, autosomal dominant 50 | 1 | May 30, 2026 |
| Intellectual disability, autosomal dominant 51 | 1 | Dec 16, 2022 |
| Intellectual disability, autosomal dominant 53 | 1 | Dec 15, 2022 |
| Intellectual disability, autosomal dominant 56 | 1 | Apr 28, 2025 |
| Intellectual disability, autosomal dominant 9 | 1 | Oct 19, 2022 |
| Intellectual disability, autosomal recessive 27 | 1 | Jan 19, 2017 |
| Intellectual disability, autosomal recessive 42 | 2 | May 14, 2024 |
| Intellectual disability, autosomal recessive 5 | 1 | Jul 15, 2017 |
| Intellectual disability, autosomal recessive 52 | 1 | Oct 14, 2022 |
| Intellectual disability, autosomal recessive 53 | 2 | Sep 18, 2023 |
| Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 1 | Mar 1, 2022 |
| Interstitial lung disease due to ABCA3 deficiency | 1 | Aug 14, 2020 |
| Iodotyrosyl coupling defect | 1 | Jul 11, 2024 |
| Joubert syndrome 16 | 1 | Sep 25, 2020 |
| Joubert syndrome 8 | 1 | May 8, 2024 |
| Junctional epidermolysis bullosa gravis of Herlitz | 1 | Nov 26, 2024 |
| KBG syndrome | 2 | Feb 24, 2022 |
| Kabuki syndrome 2 | 1 | Dec 16, 2022 |
| Kahrizi syndrome | 1 | Feb 17, 2024 |
| Karyomegalic interstitial nephritis | 1 | Jul 2, 2024 |
| Kindler syndrome | 1 | Jan 31, 2025 |
| King Denborough syndrome | 1 | Sep 8, 2025 |
| Kleefstra syndrome 1 | 1 | Mar 14, 2024 |
| Kleefstra syndrome 2 | 4 | Apr 22, 2025 |
| Klippel-Feil syndrome 3, autosomal dominant | 1 | Mar 14, 2024 |
| Kufor-Rakeb syndrome | 1 | Sep 12, 2019 |
| L-2-hydroxyglutaric aciduria | 2 | Mar 3, 2022 |
| LRFN1 | 1 | Oct 1, 2021 |
| LZTR1-related schwannomatosis | 1 | Sep 11, 2021 |
| Langer mesomelic dysplasia syndrome | 1 | Apr 15, 2023 |
| Laron-type isolated somatotropin defect | 2 | Feb 27, 2024 |
| Larsen syndrome | 1 | Nov 18, 2024 |
| Lateral meningocele syndrome | 1 | Nov 9, 2024 |
| Leber congenital amaurosis 11 | 1 | Aug 22, 2024 |
| Leber congenital amaurosis 15 | 1 | Dec 15, 2022 |
| Leber congenital amaurosis 19 | 1 | Jul 31, 2020 |
| Leber congenital amaurosis 6 | 1 | Dec 15, 2022 |
| Left ventricular noncompaction 10 | 1 | May 1, 2026 |
| Leigh syndrome | 2 | Jan 10, 2019 |
| Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome | 1 | Oct 5, 2023 |
| Lethal osteosclerotic bone dysplasia | 2 | Oct 24, 2017 |
| Leukodystrophy, hypomyelinating, 22 | 1 | Jan 9, 2024 |
| Leukoencephalopathy with vanishing white matter 1 | 1 | Jul 23, 2024 |
| Li-Fraumeni syndrome 1 | 2 | Apr 2, 2025 |
| Lissencephaly 9 with complex brainstem malformation | 1 | Mar 30, 2026 |
| Lissencephaly due to LIS1 mutation | 1 | Jun 11, 2018 |
| Long QT syndrome 1 | 1 | Jan 3, 2025 |
| Long QT syndrome 2 | 1 | Jul 11, 2024 |
| Long QT syndrome 3 | 1 | Oct 14, 2024 |
| Lowe syndrome | 2 | Jul 23, 2024 |
| Lynch syndrome 1 | 13 | Jun 16, 2026 |
| Lynch syndrome 4 | 2 | Jun 18, 2025 |
| Lynch syndrome 5 | 2 | Apr 14, 2023 |
| Lynch syndrome 8 | 3 | Aug 12, 2024 |
| Lysosomal acid lipase deficiency | 1 | Feb 12, 2019 |
| MHC class II deficiency | 1 | May 8, 2023 |
| Malignant tumor of esophagus | 1 | Aug 17, 2022 |
| Marfan syndrome | 2 | Jan 7, 2026 |
| Maturity-onset diabetes of the young type 1 | 1 | Jun 1, 2023 |
| Maturity-onset diabetes of the young type 7 | 1 | Jun 21, 2025 |
| Meckel syndrome, type 4 | 1 | Jun 30, 2018 |
| Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | 1 | Aug 14, 2020 |
| Megaconial type congenital muscular dystrophy | 1 | Jul 10, 2017 |
| Megalencephalic leukoencephalopathy with subcortical cysts 1 | 3 | May 25, 2023 |
| Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability | 1 | Jul 18, 2023 |
| Menke-Hennekam syndrome 1 | 3 | Jan 10, 2023 |
| Menke-Hennekam syndrome 2 | 1 | Aug 11, 2025 |
| Menkes kinky-hair syndrome | 2 | May 18, 2024 |
| Merosin deficient congenital muscular dystrophy | 1 | Apr 19, 2018 |
| Metachromatic leukodystrophy | 11 | Mar 26, 2024 |
| Metaphyseal chondrodysplasia, Jansen type | 1 | Jun 19, 2020 |
| Methylmalonic acidemia with homocystinuria, type cblX | 1 | Jul 3, 2025 |
| Methylmalonic aciduria, cblA type | 1 | Jan 28, 2019 |
| Methylmalonic aciduria, cblB type | 1 | Jul 2, 2017 |
| Microcephalic osteodysplastic primordial dwarfism type II | 1 | Jun 8, 2023 |
| Microcephalic primordial dwarfism, Alazami type | 1 | Nov 18, 2022 |
| Microcephaly 16, primary, autosomal recessive | 1 | Aug 22, 2024 |
| Microcephaly 18, primary, autosomal dominant | 1 | Nov 19, 2022 |
| Microcephaly 5, primary, autosomal recessive | 2 | Apr 27, 2026 |
| Microcephaly and chorioretinopathy 1 | 3 | Sep 2, 2022 |
| Microcephaly, seizures, and developmental delay | 1 | Jun 10, 2025 |
| Microcephaly, short stature, and impaired glucose metabolism 1 | 1 | Dec 13, 2022 |
| Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 4 | Jul 8, 2023 |
| Mitochondrial DNA depletion syndrome 4b | 2 | Mar 23, 2023 |
| Mitochondrial DNA depletion syndrome 8a | 1 | Jan 3, 2026 |
| Mitochondrial DNA depletion syndrome 9 | 2 | Oct 15, 2022 |
| Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | 1 | Mar 30, 2026 |
| Mitochondrial complex I deficiency, nuclear type 10 | 1 | Mar 30, 2026 |
| Mitochondrial complex I deficiency, nuclear type 5 | 1 | Apr 27, 2026 |
| Mitochondrial complex IV deficiency, nuclear type 1 | 2 | Jul 3, 2025 |
| Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | 1 | Jan 4, 2023 |
| Miyoshi muscular dystrophy 1 | 1 | Nov 24, 2025 |
| Mowat-Wilson syndrome | 1 | Sep 23, 2022 |
| Moyamoya disease 2 | 1 | Oct 26, 2024 |
| Mucolipidosis type II | 8 | Apr 28, 2026 |
| Mucopolysaccharidosis type 6 | 12 | Apr 28, 2026 |
| Mucopolysaccharidosis, MPS-I-S | 1 | Jun 30, 2023 |
| Mucopolysaccharidosis, MPS-II | 23 | Feb 5, 2026 |
| Mucopolysaccharidosis, MPS-III-A | 11 | Oct 23, 2024 |
| Mucopolysaccharidosis, MPS-III-B | 16 | Feb 5, 2026 |
| Mucopolysaccharidosis, MPS-III-C | 1 | May 3, 2017 |
| Mucopolysaccharidosis, MPS-IV-A | 33 | Apr 28, 2026 |
| Multiple acyl-CoA dehydrogenase deficiency | 1 | Aug 1, 2023 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 1 | Dec 12, 2019 |
| Multiple congenital anomalies-neurodevelopmental syndrome, X-linked | 1 | Nov 24, 2022 |
| Multiple endocrine neoplasia type 2A | 1 | Aug 21, 2017 |
| Multiple epiphyseal dysplasia type 1 | 1 | Jun 3, 2023 |
| Multiple mitochondrial dysfunctions syndrome 3 | 1 | Aug 24, 2017 |
| Multiple mitochondrial dysfunctions syndrome 4 | 1 | Nov 11, 2023 |
| Multiple mitochondrial dysfunctions syndrome 9b | 1 | Mar 31, 2026 |
| Multiple sulfatase deficiency | 1 | Dec 23, 2021 |
| Muscular dystrophy, limb-girdle, autosomal dominant 4 | 1 | Jan 25, 2023 |
| Muscular dystrophy, limb-girdle, autosomal recessive 23 | 2 | Nov 26, 2024 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 1 | Jul 5, 2017 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 | 1 | Aug 8, 2025 |
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 | 1 | Mar 18, 2023 |
| Myofibrillar myopathy 5 | 1 | Nov 26, 2024 |
| Myopathy, congenital, with structured cores and z-line abnormalities | 1 | Dec 13, 2022 |
| Myopathy, proximal, and ophthalmoplegia | 2 | Jan 3, 2026 |
| Myopathy, reducing body, X-linked, childhood-onset | 1 | Jul 16, 2025 |
| Nemaline myopathy 9 | 1 | Mar 24, 2023 |
| Nephronophthisis 4 | 3 | Sep 24, 2022 |
| Nephronophthisis 9 | 1 | May 2, 2024 |
| Nephrotic syndrome, type 3 | 1 | Jun 12, 2020 |
| Neu-Laxova syndrome 1 | 1 | May 17, 2021 |
| Neurodegeneration with brain iron accumulation 4 | 4 | Sep 14, 2023 |
| Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | 2 | Jun 18, 2024 |
| Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects | 1 | Jun 10, 2023 |
| Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | 1 | Sep 28, 2022 |
| Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum | 1 | Jul 8, 2023 |
| Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | 1 | Jan 3, 2026 |
| Neurodevelopmental disorder with hypotonia, seizures, and absent language | 2 | Jan 9, 2024 |
| Neurodevelopmental disorder with impaired speech and hyperkinetic movements | 1 | Mar 30, 2024 |
| Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies | 1 | May 1, 2026 |
| Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | 2 | Feb 12, 2025 |
| Neurodevelopmental disorder with neuromuscular and skeletal abnormalities | 1 | Apr 19, 2023 |
| Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 1 | May 1, 2026 |
| Neurodevelopmental disorder with or without autism or seizures | 1 | Jun 10, 2025 |
| Neurodevelopmental disorder with or without seizures and gait abnormalities | 2 | Sep 23, 2022 |
| Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | 1 | Nov 11, 2023 |
| Neurodevelopmental disorder with speech impairment and dysmorphic facies | 2 | Mar 29, 2024 |
| Neurodevelopmental disorder with speech impairment and with or without seizures | 1 | Nov 24, 2025 |
| Neurofibromatosis, type 1 | 6 | Oct 25, 2025 |
| Neurofibromatosis, type 2 | 2 | Aug 10, 2024 |
| Neuronal ceroid lipofuscinosis 1 | 4 | May 6, 2016 |
| Neuronal ceroid lipofuscinosis 2 | 13 | Nov 26, 2024 |
| Neuronal ceroid lipofuscinosis 5 | 1 | Apr 3, 2023 |
| Neuronal ceroid lipofuscinosis 7 | 3 | Mar 24, 2023 |
| Neutral 1 amino acid transport defect | 1 | Feb 24, 2022 |
| Niemann-Pick disease, type A | 22 | Feb 27, 2026 |
| Niemann-Pick disease, type B | 8 | Nov 28, 2025 |
| Niemann-Pick disease, type C1 | 12 | Feb 4, 2026 |
| Niemann-Pick disease, type C2 | 4 | Oct 5, 2023 |
| Nizon-Isidor syndrome | 3 | May 2, 2024 |
| Noonan syndrome 10 | 3 | Mar 2, 2026 |
| Noonan syndrome 4 | 1 | Aug 30, 2022 |
| Noonan syndrome 9 | 1 | Apr 22, 2022 |
| Obsessive-compulsive disorder | 1 | Oct 19, 2021 |
| Oculocutaneous albinism type 1A | 6 | Nov 26, 2024 |
| Oculocutaneous albinism type 1B | 2 | Nov 26, 2024 |
| Oculofaciocardiodental syndrome | 1 | Jun 3, 2024 |
| Odonto-onycho-dermal dysplasia | 1 | Nov 18, 2024 |
| Oligospermia | 2 | Mar 23, 2023 |
| Ornithine carbamoyltransferase deficiency | 3 | Sep 23, 2022 |
| Osteogenesis imperfecta type 10 | 1 | May 30, 2018 |
| Osteogenesis imperfecta type 13 | 2 | Nov 24, 2022 |
| Osteogenesis imperfecta type 5 | 1 | Aug 27, 2019 |
| Osteogenesis imperfecta type 6 | 3 | Sep 5, 2023 |
| Osteogenesis imperfecta type 8 | 2 | Sep 24, 2022 |
| Osteogenesis imperfecta type I | 3 | Jun 10, 2025 |
| Osteogenesis imperfecta, perinatal lethal | 1 | Apr 22, 2024 |
| Osteogenesis imperfecta, type 18 | 1 | Jan 31, 2023 |
| Osteoporosis with pseudoglioma | 1 | Sep 18, 2023 |
| PCWH syndrome | 1 | Nov 18, 2024 |
| Palmoplantar keratoderma i, striate, focal, or diffuse | 1 | Feb 27, 2025 |
| Pancreatic cancer, susceptibility to, 2 | 1 | Apr 23, 2025 |
| Parenti-mignot neurodevelopmental syndrome | 2 | Apr 8, 2025 |
| Parkinson disease 18, autosomal dominant, susceptibility to | 1 | Apr 28, 2025 |
| Parkinsonian-pyramidal syndrome | 1 | Aug 25, 2017 |
| Parkinsonism with polyneuropathy | 1 | Oct 23, 2024 |
| Partial androgen insensitivity syndrome | 1 | Jul 1, 2023 |
| Pelizaeus-Merzbacher disease | 2 | Sep 8, 2025 |
| Peroxisome biogenesis disorder 6B | 1 | Feb 24, 2026 |
| Persistent Mullerian duct syndrome | 1 | Sep 16, 2024 |
| Peutz-Jeghers syndrome | 1 | Apr 22, 2022 |
| Phelan-McDermid syndrome | 4 | Feb 11, 2026 |
| Phenylketonuria | 1 | Mar 31, 2026 |
| Pierpont syndrome | 1 | Oct 19, 2021 |
| Pierson syndrome | 1 | May 15, 2024 |
| Pigmentary pallidal degeneration | 3 | Aug 22, 2022 |
| Pilarowski-Bjornsson syndrome | 2 | May 2, 2024 |
| Pitt-Hopkins syndrome | 1 | Dec 15, 2022 |
| Pituitary hormone deficiency, combined, 1 | 1 | Jun 19, 2019 |
| Polycystic kidney disease 2 | 2 | Aug 16, 2023 |
| Polycystic kidney disease 4 | 2 | May 15, 2024 |
| Polycystic kidney disease 8 | 1 | Apr 27, 2026 |
| Polycystic kidney disease, adult type | 4 | Apr 27, 2026 |
| Polymerase proofreading-related adenomatous polyposis | 1 | Mar 14, 2023 |
| Polyposis syndrome, hereditary mixed, 2 | 1 | Nov 26, 2024 |
| Pontocerebellar hypoplasia, type 16 | 1 | Jan 11, 2024 |
| Porphobilinogen synthase deficiency | 1 | Jul 17, 2018 |
| Prieto syndrome | 1 | May 30, 2026 |
| Primary ciliary dyskinesia 5 | 2 | Apr 7, 2023 |
| Progeroid and marfanoid aspect-lipodystrophy syndrome | 1 | Nov 16, 2022 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 1 | Nov 16, 2022 |
| Progressive familial heart block, type 1A | 1 | Oct 14, 2024 |
| Progressive myoclonic epilepsy type 3 | 1 | Jul 12, 2018 |
| Progressive pseudorheumatoid dysplasia | 1 | Apr 11, 2025 |
| Propionic acidemia | 2 | Mar 30, 2026 |
| Pseudohypoaldosteronism, type IB1, autosomal recessive | 1 | Jan 31, 2018 |
| Pyknodysostosis | 1 | Nov 15, 2024 |
| Pyridoxine-dependent epilepsy | 1 | Dec 15, 2022 |
| Pyruvate carboxylase deficiency | 1 | Dec 21, 2015 |
| Pyruvate dehydrogenase E1-alpha deficiency | 1 | Jan 3, 2019 |
| Recessive dystrophic epidermolysis bullosa | 3 | Mar 2, 2023 |
| Reduced sperm motility | 1 | Mar 23, 2023 |
| Renal cysts and diabetes syndrome | 1 | May 18, 2020 |
| Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss | 1 | May 15, 2024 |
| Retinitis pigmentosa 20 | 2 | Nov 18, 2024 |
| Retinitis pigmentosa 25 | 1 | Jan 3, 2026 |
| Retinitis pigmentosa 39 | 1 | Sep 28, 2022 |
| Retinitis pigmentosa 40 | 1 | Mar 23, 2023 |
| Retinitis pigmentosa 54 | 1 | Jan 7, 2019 |
| Rett syndrome | 5 | Dec 23, 2024 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 1 | May 14, 2024 |
| Salla disease | 1 | Aug 2, 2017 |
| Sandhoff disease | 6 | Dec 8, 2023 |
| Schaaf-Yang syndrome | 2 | Feb 11, 2026 |
| See cases | 9 | Feb 5, 2024 |
| Seizures, benign familial infantile, 2 | 1 | Jun 17, 2020 |
| Seizures, benign familial neonatal, 1 | 1 | Nov 26, 2024 |
| Seizures, benign familial neonatal, 2 | 1 | Mar 11, 2023 |
| Seizures, early-onset, with neurodegeneration and brain calcifications | 1 | Nov 22, 2023 |
| Sessile serrated polyposis cancer syndrome | 1 | Sep 29, 2025 |
| Severe early-childhood-onset retinal dystrophy | 2 | Feb 5, 2020 |
| Severe intellectual disability-progressive spastic diplegia syndrome | 1 | Apr 24, 2025 |
| Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | 1 | Feb 20, 2026 |
| Severe myoclonic epilepsy in infancy | 5 | Nov 26, 2024 |
| Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | 1 | Jan 31, 2023 |
| Shukla-Vernon syndrome | 3 | Feb 27, 2025 |
| Sialic acid storage disease, severe infantile type | 1 | Mar 22, 2023 |
| Sialidosis type 2 | 1 | Sep 18, 2023 |
| Sifrim-Hitz-Weiss syndrome | 1 | Jan 31, 2023 |
| Smith-Lemli-Opitz syndrome | 1 | May 2, 2024 |
| Snijders Blok-Campeau syndrome | 1 | Apr 13, 2023 |
| Sotos syndrome | 1 | Feb 22, 2022 |
| Spastic ataxia 5 | 1 | Jan 19, 2017 |
| Spastic paraplegia 87, autosomal recessive | 1 | Jun 3, 2026 |
| Spermatogenic failure 18 | 3 | Aug 24, 2024 |
| Spermatogenic failure 31 | 3 | Sep 11, 2023 |
| Spermatogenic failure 35 | 1 | Jul 1, 2023 |
| Spermatogenic failure 39 | 2 | Apr 25, 2023 |
| Spermatogenic failure 66 | 1 | Jul 20, 2023 |
| Spermatogenic failure 9 | 1 | Jul 2, 2024 |
| Sphingolipid activator protein 1 deficiency | 3 | Jun 1, 2024 |
| Spinal muscular atrophy with congenital bone fractures 1 | 1 | Nov 24, 2022 |
| Spinocerebellar ataxia type 13 | 1 | Apr 20, 2021 |
| Spinocerebellar ataxia type 15/16 | 2 | Jun 21, 2025 |
| Spinocerebellar ataxia type 19/22 | 1 | Sep 12, 2019 |
| Spinocerebellar ataxia type 40 | 2 | Aug 22, 2023 |
| Spinocerebellar ataxia type 5 | 3 | Apr 23, 2025 |
| Split hand-foot malformation 1 with sensorineural hearing loss | 1 | Apr 28, 2025 |
| Spondyloepimetaphyseal dysplasia with multiple dislocations | 1 | May 25, 2024 |
| Spondyloepimetaphyseal dysplasia, aggrecan type | 1 | Dec 21, 2022 |
| Spondyloepimetaphyseal dysplasia, di rocco type | 1 | Oct 25, 2025 |
| Spongy degeneration of central nervous system | 2 | Mar 30, 2026 |
| Succinate-semialdehyde dehydrogenase deficiency | 1 | Jun 11, 2022 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 1 | Feb 28, 2026 |
| Syndromic X-linked intellectual disability Lubs type | 2 | Nov 26, 2024 |
| Syndromic X-linked intellectual disability Najm type | 1 | Sep 5, 2023 |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | 1 | Apr 27, 2026 |
| Tay-Sachs disease | 40 | Oct 23, 2024 |
| Tay-Sachs disease, variant AB | 2 | Jan 26, 2017 |
| Temtamy syndrome | 1 | Sep 14, 2021 |
| Thanatophoric dysplasia, type 2 | 1 | Nov 18, 2024 |
| Thrombocytopenia 1 | 1 | Mar 11, 2020 |
| Thrombophilia due to protein C deficiency, autosomal recessive | 1 | Dec 12, 2019 |
| Tibial muscular dystrophy | 1 | May 18, 2018 |
| Timothy syndrome | 1 | Jun 28, 2018 |
| Torsion dystonia 6 | 1 | Mar 11, 2020 |
| Townes-Brocks syndrome 1 | 1 | Jul 1, 2023 |
| Treacher Collins syndrome 1 | 3 | Dec 23, 2022 |
| Trichorhinophalangeal dysplasia type I | 1 | Jan 25, 2023 |
| Tuberous sclerosis 2 | 2 | Jul 17, 2023 |
| Type 2 diabetes mellitus | 2 | Apr 28, 2025 |
| UDPglucose-4-epimerase deficiency | 1 | Jan 11, 2023 |
| Ullrich congenital muscular dystrophy 1A | 2 | Jan 9, 2024 |
| Ullrich congenital muscular dystrophy 2 | 1 | Apr 22, 2022 |
| Uncombable hair syndrome 3 | 1 | Jul 3, 2025 |
| Urinary bladder, atony of | 1 | Nov 24, 2022 |
| Usher syndrome type 1 | 2 | Sep 10, 2025 |
| Usher syndrome type 1F | 1 | Sep 7, 2022 |
| Usher syndrome type 2A | 3 | Sep 7, 2022 |
| Usmani-Riazuddin syndrome, autosomal dominant | 1 | Jan 9, 2024 |
| VPS13A-related neurodegenerative disease | 1 | Mar 11, 2020 |
| Van Maldergem syndrome 1 | 1 | Aug 4, 2017 |
| Vanishing white matter disease | 1 | Jan 19, 2021 |
| Ververi-Brady syndrome | 1 | May 8, 2023 |
| Very long chain acyl-CoA dehydrogenase deficiency | 3 | May 2, 2026 |
| Weiss-Kruszka syndrome | 1 | Aug 23, 2022 |
| Williams syndrome | 1 | Jul 11, 2024 |
| Wilson disease | 4 | Jun 16, 2023 |
| X-linked Alport syndrome | 5 | Nov 10, 2023 |
| X-linked cone-rod dystrophy 1 | 2 | Feb 21, 2026 |
| X-linked intellectual disability, Cantagrel type | 2 | Feb 11, 2026 |
| X-linked lymphoproliferative disease due to SH2D1A deficiency | 1 | Jul 12, 2018 |
| X-linked severe combined immunodeficiency | 2 | Sep 11, 2021 |
| Xeroderma pigmentosum group A | 2 | Jan 19, 2017 |
| ZTTK syndrome | 2 | Jul 1, 2024 |
| beta Thalassemia | 1 | Sep 23, 2022 |
| not provided | 1 | Oct 17, 2024 |
