| 2-aminoadipic 2-oxoadipic aciduria | 1 | May 11, 2018 |
| 8q24.3 microdeletion syndrome | 2 | Mar 4, 2025 |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 2 | Sep 24, 2024 |
| ALG1-congenital disorder of glycosylation | 1 | Mar 5, 2021 |
| Abnormal long bone morphology | 1 | May 2, 2023 |
| Abnormal protein O-linked glycosylation | 1 | Apr 1, 2022 |
| Abnormality of the urinary system | 1 | Apr 11, 2019 |
| Achondrogenesis type II | 1 | Sep 15, 2023 |
| Acral peeling skin syndrome | 1 | Dec 5, 2023 |
| Acromesomelic dysplasia 1, Maroteaux type | 2 | May 22, 2023 |
| Adams-Oliver syndrome 6 | 1 | Jan 16, 2025 |
| Adenylosuccinate lyase deficiency | 1 | Aug 22, 2025 |
| Adult-onset proximal spinal muscular atrophy, autosomal dominant | 1 | May 11, 2018 |
| Aicardi-Goutieres syndrome 4 | 1 | Mar 4, 2025 |
| Aicardi-Goutieres syndrome 6 | 1 | Sep 23, 2019 |
| Aicardi-Goutieres syndrome 7 | 1 | Sep 23, 2019 |
| Alagille syndrome due to a JAG1 point mutation | 2 | Jan 30, 2023 |
| Alagille syndrome due to a NOTCH2 point mutation | 1 | Dec 19, 2018 |
| Allan-Herndon-Dudley syndrome | 1 | Dec 15, 2021 |
| Alport syndrome | 4 | Dec 17, 2021 |
| Alport syndrome 3b, autosomal recessive | 1 | Sep 29, 2025 |
| Amyotrophic lateral sclerosis type 1 | 2 | May 11, 2018 |
| Amyotrophic lateral sclerosis type 4 | 1 | Oct 2, 2020 |
| Amyotrophic lateral sclerosis type 6 | 1 | May 11, 2018 |
| Aneurysm-osteoarthritis syndrome | 4 | Dec 5, 2023 |
| Aniridia 1 | 1 | Dec 17, 2021 |
| Aortic aneurysm, familial thoracic 6 | 3 | Apr 26, 2024 |
| Aortic aneurysm, familial thoracic 7 | 2 | Nov 7, 2024 |
| Aortic valve disease 3 | 1 | Dec 17, 2021 |
| Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect | 2 | May 11, 2018 |
| Arthrogryposis, distal, with impaired proprioception and touch | 1 | May 11, 2018 |
| Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | 1 | Sep 15, 2023 |
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 1 | Dec 17, 2021 |
| Atrial fibrillation, familial, 3 | 1 | Apr 29, 2026 |
| Atypical hemolytic-uremic syndrome with C3 anomaly | 1 | Mar 5, 2021 |
| Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly | 1 | Apr 15, 2025 |
| Au-Kline syndrome | 1 | May 12, 2021 |
| Autism spectrum disorder due to AUTS2 deficiency | 1 | Jan 10, 2024 |
| Autism, susceptibility to, X-linked 1 | 1 | Dec 15, 2021 |
| Autism, susceptibility to, X-linked 2 | 1 | Apr 15, 2025 |
| Autosomal dominant Alport syndrome | 7 | Nov 7, 2024 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | 1 | May 11, 2018 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 1 | Apr 15, 2025 |
| Autosomal dominant intermediate Charcot-Marie-Tooth disease | 1 | May 11, 2018 |
| Autosomal dominant pseudohypoaldosteronism type 1 | 1 | Apr 25, 2022 |
| Autosomal dominant slowed nerve conduction velocity | 2 | Nov 28, 2018 |
| Autosomal recessive Alport syndrome | 5 | Apr 15, 2025 |
| Autosomal recessive ataxia, Beauce type | 1 | May 11, 2018 |
| Autosomal recessive axonal hereditary motor and sensory neuropathy | 2 | May 11, 2018 |
| Autosomal recessive axonal neuropathy with neuromyotonia | 1 | May 11, 2018 |
| Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | 4 | Dec 9, 2025 |
| Autosomal recessive distal spinal muscular atrophy 1 | 1 | May 11, 2018 |
| Autosomal recessive hypophosphatemic bone disease | 1 | Apr 25, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 1 | Oct 18, 2017 |
| Autosomal recessive limb-girdle muscular dystrophy type 2I | 1 | Dec 29, 2017 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 2 | Oct 2, 2020 |
| Autosomal recessive nonsyndromic hearing loss 16 | 1 | Jul 8, 2024 |
| Autosomal recessive nonsyndromic hearing loss 18A | 1 | Sep 15, 2023 |
| Autosomal recessive nonsyndromic hearing loss 18B | 2 | Apr 26, 2024 |
| Autosomal recessive polycystic kidney disease | 2 | Mar 9, 2020 |
| Autosomal recessive proximal renal tubular acidosis | 1 | Jun 11, 2018 |
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 | 1 | Feb 11, 2026 |
| Bardet-Biedl syndrome 10 | 1 | Aug 19, 2019 |
| Bartter disease type 2 | 1 | Nov 7, 2024 |
| Benign familial hematuria | 3 | Aug 8, 2022 |
| Bethlem myopathy 1A | 2 | May 11, 2018 |
| Birt-Hogg-Dube syndrome | 1 | Jul 28, 2017 |
| Birt-Hogg-Dube syndrome 1 | 1 | Feb 26, 2024 |
| Blepharocheilodontic syndrome 2 | 1 | Nov 7, 2024 |
| Bone mineral density quantitative trait locus 18 | 1 | Aug 7, 2017 |
| Brachydactyly type A1 | 2 | Mar 4, 2025 |
| Branchiootorenal syndrome 1 | 1 | Feb 14, 2020 |
| Brittle cornea syndrome 1 | 1 | May 29, 2018 |
| Brown-Vialetto-van Laere syndrome 2 | 2 | May 11, 2018 |
| Bruck syndrome 2 | 1 | Jun 11, 2018 |
| Brugada syndrome 3 | 1 | Apr 15, 2025 |
| CHARGE syndrome | 6 | Sep 29, 2025 |
| CTCF-related neurodevelopmental disorder | 1 | Apr 29, 2026 |
| Cardiofaciocutaneous syndrome 3 | 1 | Mar 30, 2020 |
| Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | 1 | Mar 4, 2025 |
| Cardiomyopathy, familial restrictive, 1 | 2 | Feb 11, 2026 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 1 | Apr 18, 2023 |
| Cerebroretinal microangiopathy with calcifications and cysts 1 | 1 | Apr 15, 2025 |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 1 | Mar 4, 2025 |
| Charcot-Marie-Tooth disease axonal type 2C | 1 | Nov 28, 2018 |
| Charcot-Marie-Tooth disease axonal type 2N | 1 | May 11, 2018 |
| Charcot-Marie-Tooth disease axonal type 2O | 1 | Jul 8, 2024 |
| Charcot-Marie-Tooth disease axonal type 2Q | 1 | Dec 12, 2017 |
| Charcot-Marie-Tooth disease axonal type 2S | 2 | May 11, 2018 |
| Charcot-Marie-Tooth disease axonal type 2Z | 1 | May 11, 2018 |
| Charcot-Marie-Tooth disease dominant intermediate D | 2 | Jul 6, 2020 |
| Charcot-Marie-Tooth disease recessive intermediate A | 3 | May 11, 2018 |
| Charcot-Marie-Tooth disease type 2 | 1 | May 11, 2018 |
| Charcot-Marie-Tooth disease type 2A2 | 1 | May 11, 2018 |
| Charcot-Marie-Tooth disease type 2D | 1 | Dec 17, 2021 |
| Charcot-Marie-Tooth disease type 4B1 | 1 | May 11, 2018 |
| Charcot-Marie-Tooth disease type 4C | 1 | Jul 24, 2019 |
| Charcot-Marie-Tooth disease type 4E | 1 | Oct 2, 2020 |
| Charcot-Marie-Tooth disease type 4F | 2 | Dec 16, 2021 |
| Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; | 3 | May 11, 2018 |
| Charcot-Marie-Tooth disease, axonal, type 2EE | 1 | Oct 2, 2020 |
| Charlevoix-Saguenay spastic ataxia | 1 | May 11, 2018 |
| Chondrodysplasia punctata 2 X-linked dominant | 1 | Apr 18, 2023 |
| Cleidocranial dysostosis | 1 | Dec 16, 2021 |
| Cockayne syndrome type 2 | 1 | Dec 11, 2018 |
| Coffin-Siris syndrome 1 | 5 | Sep 20, 2021 |
| Coffin-Siris syndrome 12 | 1 | Dec 9, 2025 |
| Cognitive impairment with or without cerebellar ataxia | 1 | Oct 17, 2023 |
| Cole-Carpenter syndrome 1 | 1 | Jan 30, 2023 |
| Cole-Carpenter syndrome 2 | 2 | Dec 5, 2023 |
| Combined oxidative phosphorylation defect type 14 | 1 | Dec 17, 2021 |
| Complex cortical dysplasia with other brain malformations 2 | 2 | Jul 30, 2019 |
| Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | 2 | Mar 4, 2025 |
| Congenital generalized lipodystrophy type 1 | 1 | Jul 16, 2019 |
| Congenital myasthenic syndrome | 1 | May 11, 2018 |
| Cornelia de Lange syndrome 1 | 2 | Apr 15, 2025 |
| Cortical dysplasia, complex, with other brain malformations 11 | 1 | Jan 10, 2024 |
| Cystic fibrosis | 2 | Oct 23, 2020 |
| Cystinuria | 3 | Oct 17, 2023 |
| DYRK1A-related intellectual disability syndrome | 1 | Jan 30, 2023 |
| DeSanto-Shinawi syndrome due to WAC point mutation | 1 | Jan 30, 2023 |
| Delayed gross motor development | 1 | Jul 10, 2024 |
| Dentinogenesis imperfecta type 2 | 1 | Feb 11, 2026 |
| Developmental and epileptic encephalopathy, 29 | 3 | Jan 3, 2022 |
| Developmental and epileptic encephalopathy, 4 | 1 | Sep 29, 2025 |
| Developmental and epileptic encephalopathy, 50 | 2 | Nov 7, 2024 |
| Developmental and epileptic encephalopathy, 51 | 1 | Jul 8, 2024 |
| Developmental and epileptic encephalopathy, 57 | 1 | Jul 12, 2021 |
| Developmental and epileptic encephalopathy, 66 | 1 | Dec 17, 2021 |
| Developmental and epileptic encephalopathy, 8 | 1 | Dec 29, 2020 |
| Developmental and epileptic encephalopathy, 87 | 1 | May 29, 2024 |
| Developmental and epileptic encephalopathy, 9 | 1 | Mar 4, 2025 |
| Developmental delay and seizures with or without movement abnormalities | 1 | Dec 5, 2023 |
| Developmental delay with variable intellectual impairment and behavioral abnormalities | 1 | Sep 15, 2023 |
| Developmental delay, behavioral abnormalities, and neuropsychiatric disorders | 1 | Jan 16, 2025 |
| Diabetes insipidus, nephrogenic, X-linked | 1 | Oct 24, 2016 |
| Diabetes insipidus, nephrogenic, autosomal | 1 | Jun 8, 2017 |
| Dias-Logan syndrome | 1 | Mar 30, 2020 |
| Dilated cardiomyopathy 1G | 4 | Jan 16, 2025 |
| Distal arthrogryposis type 5D | 2 | Dec 4, 2018 |
| Distal spinal muscular atrophy | 9 | May 11, 2018 |
| Donnai-Barrow syndrome | 2 | Apr 17, 2019 |
| Dubin-Johnson syndrome | 1 | Sep 29, 2025 |
| Early-onset myopathy with fatal cardiomyopathy | 1 | Jan 10, 2024 |
| Ehlers-Danlos syndrome due to tenascin-X deficiency | 2 | Mar 4, 2025 |
| Ehlers-Danlos syndrome, classic type, 1 | 4 | Mar 4, 2025 |
| Ehlers-Danlos syndrome, classic type, 2 | 1 | Apr 2, 2020 |
| Ehlers-Danlos syndrome, classic-like, 2 | 1 | Dec 17, 2021 |
| Ehlers-Danlos syndrome, periodontal type 1 | 1 | Apr 26, 2024 |
| Ehlers-Danlos syndrome, type 4 | 1 | Aug 7, 2017 |
| Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 1 | Apr 29, 2026 |
| Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | 1 | Oct 2, 2020 |
| Epilepsy with myoclonic atonic seizures | 1 | Apr 15, 2025 |
| Epilepsy, early-onset, 3, with or without developmental delay | 1 | Mar 4, 2025 |
| Epilepsy, early-onset, with or without developmental delay | 1 | Apr 25, 2022 |
| Epilepsy, familial focal, with variable foci 1 | 1 | Mar 4, 2025 |
| Epilepsy, idiopathic generalized, susceptibility to, 15 | 1 | May 22, 2023 |
| Epiphyseal dysplasia, multiple, 3 | 2 | Sep 24, 2024 |
| Episodic pain syndrome, familial, 2 | 1 | Mar 4, 2025 |
| Exostoses, multiple, type 1 | 2 | Sep 29, 2025 |
| Exostoses, multiple, type 2 | 1 | Aug 8, 2022 |
| FRAXE | 1 | Dec 15, 2021 |
| Factor H deficiency | 1 | Jan 16, 2025 |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 2 | Feb 26, 2024 |
| Familial hypocalciuric hypercalcemia 1 | 5 | Mar 4, 2025 |
| Familial hypocalciuric hypercalcemia 2 | 1 | Dec 5, 2019 |
| Familial hypokalemia-hypomagnesemia | 2 | Sep 6, 2017 |
| Familial juvenile hyperuricemic nephropathy type 1 | 4 | Mar 5, 2021 |
| Fanconi anemia complementation group A | 3 | Jul 3, 2023 |
| Fanconi-Bickel syndrome | 1 | May 31, 2017 |
| Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | 1 | Oct 17, 2023 |
| Fetal akinesia deformation sequence 3 | 1 | Dec 17, 2021 |
| Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | 1 | Jan 30, 2019 |
| Finnish congenital nephrotic syndrome | 1 | Sep 26, 2019 |
| Floating-Harbor syndrome | 1 | Jan 30, 2019 |
| Focal segmental glomerulosclerosis 1 | 1 | Jun 6, 2017 |
| Focal segmental glomerulosclerosis 8 | 1 | Sep 4, 2020 |
| Freeman-Sheldon syndrome | 1 | Jan 25, 2022 |
| Friedreich ataxia 1 | 1 | May 11, 2018 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | 1 | May 11, 2018 |
| GM3 synthase deficiency | 2 | Apr 29, 2026 |
| Galloway-Mowat syndrome 3 | 1 | Jan 3, 2022 |
| Generalized epilepsy with febrile seizures plus, type 2 | 1 | Aug 8, 2022 |
| Giant axonal neuropathy 1 | 1 | May 11, 2018 |
| Glycogen storage disease due to muscle beta-enolase deficiency | 1 | Jan 10, 2024 |
| Gorlin syndrome | 1 | Dec 17, 2021 |
| Growth delay due to insulin-like growth factor I resistance | 1 | Apr 26, 2024 |
| Harel-Yoon syndrome | 1 | Dec 5, 2023 |
| Hematuria, benign familial, 1 | 4 | Feb 11, 2026 |
| Hemolytic uremic syndrome, atypical, susceptibility to, 1 | 4 | Jan 10, 2024 |
| Hepatic fibrosis | 1 | Jul 10, 2024 |
| Hereditary leiomyomatosis and renal cell cancer | 1 | Mar 9, 2020 |
| Hereditary spastic paraplegia 11 | 1 | Oct 2, 2020 |
| Hereditary spastic paraplegia 13 | 1 | May 22, 2019 |
| Hereditary spastic paraplegia 15 | 2 | May 11, 2018 |
| Hereditary spastic paraplegia 55 | 1 | Oct 2, 2020 |
| Hereditary spherocytosis type 1 | 1 | Jan 16, 2025 |
| Heterotaxy, visceral, 7, autosomal | 2 | Jul 3, 2023 |
| Hyper-IgE recurrent infection syndrome 1, autosomal dominant | 1 | Dec 17, 2021 |
| Hyperaldosteronism, familial, type IV | 1 | Sep 20, 2021 |
| Hypercalcemia, infantile, 1 | 1 | Nov 14, 2019 |
| Hypercholesterolemia, familial, 1 | 1 | Dec 17, 2021 |
| Hyperphosphatasia with intellectual disability syndrome 3 | 2 | Apr 25, 2022 |
| Hypertrophic cardiomyopathy 26 | 1 | Apr 15, 2025 |
| Hypertrophic cardiomyopathy 9 | 1 | Dec 5, 2023 |
| Hyperuricemic nephropathy, familial juvenile type 3 | 2 | Jul 15, 2019 |
| Hypocalcemia | 1 | Dec 17, 2021 |
| Hypomyelinating leukodystrophy 6 | 1 | Jan 16, 2025 |
| Hypothyroidism, congenital, nongoitrous, 2 | 1 | Dec 17, 2021 |
| Imagawa-Matsumoto syndrome | 1 | Jan 16, 2025 |
| Immunodeficiency, common variable, 12 | 2 | Dec 17, 2021 |
| Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development | 1 | Feb 26, 2024 |
| Infantile liver failure syndrome 2 | 1 | Dec 17, 2021 |
| Insulin-resistant diabetes mellitus AND acanthosis nigricans | 1 | Jan 16, 2025 |
| Intellectual developmental disorder with autism and macrocephaly | 1 | Dec 17, 2021 |
| Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 1 | Dec 17, 2021 |
| Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 1 | Sep 24, 2024 |
| Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | 1 | May 22, 2023 |
| Intellectual developmental disorder, autosomal recessive 77 | 1 | Nov 7, 2024 |
| Intellectual disability | 3 | Dec 17, 2021 |
| Intellectual disability, X-linked 1 | 1 | Apr 15, 2025 |
| Intellectual disability, X-linked 49 | 1 | Nov 7, 2024 |
| Intellectual disability, X-linked, syndromic, Houge type | 1 | Jan 16, 2025 |
| Intellectual disability, autosomal dominant 1 | 1 | Aug 28, 2020 |
| Intellectual disability, autosomal dominant 43 | 1 | Aug 8, 2022 |
| Intellectual disability, autosomal dominant 5 | 1 | Nov 7, 2024 |
| Intellectual disability, autosomal dominant 50 | 1 | Jan 16, 2025 |
| Intellectual disability, autosomal dominant 57 | 1 | Apr 6, 2021 |
| Intellectual disability, autosomal dominant 6 | 1 | Sep 24, 2024 |
| Intellectual disability, autosomal recessive 53 | 1 | Mar 4, 2025 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 1 | Dec 17, 2021 |
| Joubert syndrome 7 | 1 | Sep 29, 2025 |
| KBG syndrome | 1 | Jan 16, 2025 |
| Kabuki syndrome 1 | 3 | May 11, 2018 |
| Kabuki syndrome 2 | 1 | Apr 15, 2025 |
| Kugelberg-Welander disease | 1 | Apr 2, 2020 |
| Landau-Kleffner syndrome | 1 | Apr 18, 2023 |
| Lesch-Nyhan syndrome | 1 | Aug 8, 2022 |
| Lethal multiple pterygium syndrome | 1 | Jan 19, 2018 |
| Lissencephaly due to TUBA1A mutation | 1 | Nov 30, 2018 |
| Loeys-Dietz syndrome 1 | 2 | Mar 4, 2025 |
| Loeys-Dietz syndrome 2 | 1 | Apr 26, 2024 |
| Loeys-Dietz syndrome 4 | 3 | Nov 10, 2025 |
| Loeys-Dietz syndrome 6 | 1 | Apr 15, 2025 |
| Long QT syndrome 8 | 1 | Apr 15, 2025 |
| Lymphatic malformation 12 | 2 | Sep 24, 2024 |
| MYPN-related myopathy | 1 | Apr 29, 2026 |
| Malan overgrowth syndrome | 1 | Apr 18, 2023 |
| Mandibulofacial dysostosis-microcephaly syndrome | 3 | Sep 29, 2025 |
| Marfan syndrome | 20 | Feb 11, 2026 |
| Maturity-onset diabetes of the young type 1 | 1 | Sep 4, 2017 |
| Metachromatic leukodystrophy | 1 | Oct 2, 2020 |
| Microcephaly 3, primary, autosomal recessive | 1 | Jan 30, 2023 |
| Microphthalmia, syndromic 12 | 1 | Dec 17, 2021 |
| Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | 1 | Dec 9, 2025 |
| Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | 1 | Dec 17, 2021 |
| Mitochondrial complex 2 deficiency, nuclear type 2 | 1 | Apr 29, 2026 |
| Mitochondrial complex I deficiency, nuclear type 9 | 1 | Oct 2, 2020 |
| Mitochondrial myopathy-lactic acidosis-deafness syndrome | 2 | Dec 17, 2021 |
| Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | 1 | Oct 2, 2020 |
| Motor axonal neuropathy | 4 | Aug 11, 2020 |
| Motor neuron disease | 2 | Dec 17, 2021 |
| Mucolipidosis type II | 1 | Dec 6, 2018 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 1 | Nov 5, 2019 |
| Multiple endocrine neoplasia, type 1 | 1 | Jun 3, 2020 |
| Multiple epiphyseal dysplasia, Beighton type | 1 | Apr 6, 2021 |
| Muscular dystrophy | 1 | Dec 17, 2021 |
| Muscular dystrophy, limb-girdle, autosomal dominant 4 | 1 | Jan 16, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 | 1 | Dec 5, 2023 |
| Myofibrillar myopathy 11 | 1 | Jan 10, 2024 |
| Myosin storage myopathy | 1 | Feb 26, 2024 |
| Nail-patella syndrome | 4 | Dec 5, 2019 |
| Nephronophthisis 3 | 1 | Jul 14, 2017 |
| Nephropathic cystinosis | 2 | Dec 19, 2018 |
| Nephrotic syndrome, type 12 | 1 | Sep 15, 2023 |
| Nephrotic syndrome, type 3 | 1 | Apr 25, 2022 |
| Nephrotic syndrome, type 6 | 1 | Jan 16, 2025 |
| Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | 1 | Oct 2, 2020 |
| Neurodegeneration, childhood-onset, with cerebellar atrophy | 2 | Oct 2, 2020 |
| Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | 2 | Nov 7, 2024 |
| Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | 1 | Apr 15, 2025 |
| Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language | 1 | May 22, 2023 |
| Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures | 1 | Jul 8, 2024 |
| Neurodevelopmental disorder with or without autism or seizures | 1 | Apr 26, 2024 |
| Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | 1 | Mar 4, 2025 |
| Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy | 1 | Oct 17, 2023 |
| Neurodevelopmental disorder with speech impairment and dysmorphic facies | 1 | Apr 25, 2022 |
| Neurofibromatosis, type 1 | 6 | Mar 4, 2025 |
| Neuronopathy, distal hereditary motor, autosomal dominant 8 | 1 | May 11, 2018 |
| Neuronopathy, distal hereditary motor, autosomal recessive | 1 | May 11, 2018 |
| Neuronopathy, distal hereditary motor, autosomal recessive 4 | 1 | May 11, 2018 |
| Neuronopathy, distal hereditary motor, type 2B | 1 | May 11, 2018 |
| Neuronopathy, distal hereditary motor, type 5A | 1 | May 11, 2018 |
| Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy | 1 | Oct 2, 2020 |
| Neuropathy, hereditary sensory, type 1F | 1 | Apr 15, 2025 |
| Nicolaides-Baraitser syndrome | 1 | Oct 24, 2016 |
| Noonan syndrome 10 | 1 | Aug 9, 2018 |
| Noonan syndrome 5 | 1 | Apr 25, 2023 |
| O'Donnell-Luria-Rodan syndrome | 17 | May 11, 2021 |
| Ocular albinism, type I | 2 | Jan 16, 2025 |
| Ocular cystinosis | 1 | Mar 24, 2020 |
| Oculocerebrofacial syndrome, Kaufman type | 1 | Jan 30, 2023 |
| Oculofaciocardiodental syndrome | 1 | Dec 17, 2021 |
| Opsismodysplasia | 1 | Nov 28, 2018 |
| Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome | 1 | Oct 2, 2020 |
| Osteogenesis imperfecta | 6 | Dec 17, 2021 |
| Osteogenesis imperfecta type 11 | 1 | May 21, 2019 |
| Osteogenesis imperfecta type 15 | 1 | Sep 24, 2024 |
| Osteogenesis imperfecta type 6 | 1 | Mar 21, 2019 |
| Osteogenesis imperfecta type 7 | 1 | Aug 2, 2017 |
| Osteogenesis imperfecta type 8 | 2 | Nov 2, 2022 |
| Osteogenesis imperfecta type I | 9 | Jun 9, 2020 |
| Osteogenesis imperfecta with normal sclerae, dominant form | 2 | Jul 8, 2024 |
| Osteogenesis imperfecta, perinatal lethal | 6 | Jul 8, 2024 |
| Otospondylomegaepiphyseal dysplasia, autosomal recessive | 1 | Sep 28, 2020 |
| PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 1 | Sep 24, 2024 |
| PPARG-related familial partial lipodystrophy | 1 | Jan 30, 2023 |
| Papillary renal cell carcinoma type 1 | 1 | Jan 17, 2018 |
| Partington syndrome | 1 | Dec 17, 2021 |
| Peroxisome biogenesis disorder 7A (Zellweger) | 1 | May 22, 2023 |
| Persistent hyperplastic primary vitreous, autosomal recessive | 1 | May 22, 2023 |
| Pheochromocytoma | 1 | Nov 21, 2019 |
| Pierson syndrome | 1 | Jun 30, 2017 |
| Polycystic kidney disease 2 | 7 | Feb 26, 2024 |
| Polycystic kidney disease 4 | 2 | Apr 26, 2024 |
| Polycystic kidney disease 6 with or without polycystic liver disease | 3 | May 29, 2024 |
| Polycystic kidney disease, adult type | 25 | Apr 29, 2026 |
| Polyglandular autoimmune syndrome, type 1 | 1 | Sep 29, 2025 |
| Pontocerebellar hypoplasia type 1B | 1 | Oct 2, 2020 |
| Pontocerebellar hypoplasia type 2D | 2 | Oct 2, 2020 |
| Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal | 1 | Dec 5, 2023 |
| Postmenopausal osteoporosis | 1 | Mar 21, 2019 |
| Primary ciliary dyskinesia 2 | 1 | Dec 5, 2023 |
| Primary ciliary dyskinesia 9 | 1 | Apr 18, 2023 |
| Primary hyperoxaluria, type I | 1 | Apr 26, 2022 |
| Primary hyperoxaluria, type II | 1 | Dec 19, 2018 |
| Progressive scapulohumeroperoneal distal myopathy | 1 | May 11, 2018 |
| Proximal spinal muscular atrophy | 3 | May 11, 2018 |
| Pseudohypoaldosteronism type 2B | 1 | Feb 14, 2018 |
| Pseudohypoparathyroidism type I A | 1 | Mar 13, 2024 |
| Pulmonary venoocclusive disease 1 | 2 | Dec 17, 2021 |
| Rafiq syndrome | 1 | Nov 10, 2025 |
| Rauch-Steindl syndrome | 2 | Nov 10, 2025 |
| Recurrent fractures | 1 | May 2, 2023 |
| Reduced bone mineral density | 1 | May 2, 2023 |
| Renal cysts and diabetes syndrome | 1 | Sep 29, 2025 |
| Renal hypodysplasia/aplasia 3 | 1 | Dec 17, 2021 |
| Rhabdomyolysis, susceptibility to, 1 | 1 | May 29, 2024 |
| SIN3A-related intellectual disability syndrome due to a point mutation | 1 | May 22, 2023 |
| Saldino-Mainzer syndrome | 1 | Dec 17, 2021 |
| Schaaf-Yang syndrome | 1 | Jan 11, 2019 |
| Schimke immuno-osseous dysplasia | 2 | Jan 7, 2019 |
| Scoliosis | 1 | May 2, 2023 |
| See cases | 5 | Jun 3, 2026 |
| Seizures, benign familial infantile, 3 | 2 | Jan 16, 2025 |
| Seizures, benign familial infantile, 5 | 1 | Apr 18, 2023 |
| Seizures, benign familial neonatal, 1 | 1 | Jul 8, 2024 |
| Senior-Loken syndrome 8 | 2 | May 22, 2023 |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 2 | Mar 20, 2024 |
| Severe dermatitis-multiple allergies-metabolic wasting syndrome | 2 | Apr 25, 2022 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 1 | Sep 15, 2023 |
| Short stature | 1 | May 2, 2023 |
| Sifrim-Hitz-Weiss syndrome | 1 | Sep 4, 2020 |
| Smith-McCort dysplasia 1 | 1 | Feb 11, 2026 |
| Sotos syndrome | 1 | Dec 9, 2025 |
| Spectraplakinopathy type I | 6 | Oct 2, 2020 |
| Spinal muscular atrophy, facioscapulohumeral type | 1 | May 11, 2018 |
| Spinocerebellar ataxia type 5 | 1 | Nov 7, 2024 |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 1 | May 11, 2018 |
| Splenomegaly | 1 | Jul 10, 2024 |
| Spondyloepiphyseal dysplasia with congenital joint dislocations | 1 | Oct 5, 2023 |
| Stickler syndrome type 2 | 1 | Nov 7, 2024 |
| Stickler syndrome, type I, nonsyndromic ocular | 1 | Jul 12, 2021 |
| Striatonigral degeneration, childhood-onset | 2 | Mar 4, 2025 |
| Stuve-Wiedemann syndrome | 2 | Feb 1, 2021 |
| Syndromic X-linked intellectual disability 94 | 1 | Dec 9, 2025 |
| TARP syndrome | 1 | Dec 9, 2025 |
| Tatton-Brown-Rahman overgrowth syndrome | 1 | May 22, 2019 |
| Temple-Baraitser syndrome | 1 | Sep 4, 2019 |
| Timothy syndrome | 1 | Apr 15, 2025 |
| Townes-Brocks syndrome 1 | 1 | Aug 8, 2022 |
| Treacher Collins syndrome 1 | 1 | Jul 8, 2024 |
| Tuberous sclerosis 2 | 4 | Jul 8, 2024 |
| Tyrosinase-positive oculocutaneous albinism | 1 | Nov 6, 2020 |
| Ullrich congenital muscular dystrophy 2 | 1 | May 11, 2018 |
| Usher syndrome type 1C | 1 | May 13, 2024 |
| Usher syndrome type 1F | 1 | Dec 3, 2021 |
| Usher syndrome type 1G | 1 | Jan 30, 2023 |
| VISS syndrome | 1 | Dec 5, 2023 |
| Vissers-Bodmer syndrome | 2 | Sep 24, 2024 |
| Von Hippel-Lindau syndrome | 2 | Mar 5, 2021 |
| Weaver syndrome | 1 | Jul 16, 2019 |
| Wilms tumor 1 | 1 | Jun 8, 2017 |
| X-linked Alport syndrome | 16 | Apr 15, 2025 |
| X-linked agammaglobulinemia | 1 | Jan 16, 2025 |
| X-linked distal spinal muscular atrophy type 3 | 1 | May 11, 2018 |
| X-linked intellectual disability, Cantagrel type | 1 | Nov 2, 2020 |
| X-linked intellectual disability-cerebellar hypoplasia syndrome | 1 | Apr 29, 2026 |
| ZTTK syndrome | 1 | May 22, 2019 |
| Zaki syndrome | 1 | Apr 15, 2025 |
| autosomal recessive PIEZO2 associated disease | 1 | Oct 24, 2016 |
| not specified | 1 | Sep 28, 2017 |
