| 11q partial monosomy syndrome | 2 | Mar 13, 2026 |
| 15q11q13 microduplication syndrome | 2 | Mar 13, 2026 |
| 16p13.11 microdeletion | 1 | Mar 13, 2026 |
| 1q32.1microduplication | 1 | Mar 13, 2026 |
| 22q11.2 microdeletion | 1 | Mar 13, 2026 |
| 3-Methylglutaconic aciduria type 2 | 1 | Feb 14, 2025 |
| 3-methylcrotonyl-CoA carboxylase 2 deficiency | 2 | Mar 13, 2026 |
| 7q22 microdeletion | 1 | Mar 13, 2026 |
| ACTH-independent macronodular adrenal hyperplasia 2 | 1 | Jul 3, 2024 |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 1 | May 19, 2023 |
| ANKS1B-related disorder | 1 | Mar 13, 2026 |
| Abetalipoproteinaemia | 1 | Feb 20, 2023 |
| Acrodermatitis continua suppurativa of Hallopeau | 1 | Sep 13, 2023 |
| Actin accumulation myopathy | 1 | May 14, 2026 |
| Adrenoleukodystrophy | 1 | Mar 13, 2026 |
| Agammaglobulinemia 4, autosomal recessive | 1 | Aug 14, 2025 |
| Agammaglobulinemia 7, autosomal recessive | 1 | Aug 10, 2023 |
| Agammaglobulinemia 8b, autosomal recessive | 1 | Jul 30, 2024 |
| Alagille syndrome due to a JAG1 point mutation | 10 | Mar 13, 2026 |
| Alagille syndrome due to a NOTCH2 point mutation | 3 | Oct 2, 2025 |
| Alopecia universalis congenita | 1 | Aug 17, 2022 |
| Alpha-1-antitrypsin deficiency | 1 | Mar 13, 2026 |
| Alveolar capillary dysplasia with pulmonary venous misalignment | 4 | Jul 17, 2026 |
| Amyloidosis, hereditary systemic 1 | 1 | Mar 13, 2026 |
| Amyotrophic lateral sclerosis | 1 | Aug 30, 2024 |
| Amyotrophic lateral sclerosis type 22 | 1 | Sep 16, 2024 |
| Anemia, congenital dyserythropoietic, type 1a | 2 | Mar 13, 2026 |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 2 | Mar 13, 2026 |
| Angiokeratoma corporis diffusum | 2 | Jul 9, 2024 |
| Aortic aneurysm, familial thoracic 12 | 1 | Jun 19, 2024 |
| Aortic aneurysm, familial thoracic 4 | 1 | Jan 17, 2025 |
| Argininosuccinate lyase deficiency | 2 | Jul 30, 2024 |
| Arrhythmogenic right ventricular dysplasia 10 | 1 | Mar 13, 2026 |
| Arrhythmogenic right ventricular dysplasia 9 | 1 | Feb 7, 2025 |
| Asphyxiating thoracic dystrophy 3 | 1 | Apr 14, 2023 |
| Ataxia-telangiectasia syndrome | 2 | Mar 13, 2026 |
| Atrioventricular septal defect 4 | 1 | Oct 28, 2025 |
| Autism spectrum disorder due to AUTS2 deficiency | 1 | Oct 13, 2022 |
| Autism, susceptibility to, 17 | 2 | Mar 13, 2026 |
| Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | 1 | Dec 9, 2025 |
| Autoimmune interstitial lung disease-arthritis syndrome | 2 | Jul 6, 2023 |
| Autoimmune lymphoproliferative syndrome type 1 | 1 | Dec 23, 2024 |
| Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | 2 | Jan 2, 2025 |
| Autoinflammatory syndrome, familial, Behcet-like 1 | 2 | May 18, 2026 |
| Autosomal dominant distal renal tubular acidosis | 1 | Mar 13, 2026 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 1 | Mar 13, 2026 |
| Autosomal dominant nonsyndromic hearing loss 20 | 1 | Mar 13, 2026 |
| Autosomal dominant nonsyndromic hearing loss 23 | 1 | Mar 13, 2026 |
| Autosomal dominant nonsyndromic hearing loss 2A | 1 | Aug 26, 2024 |
| Autosomal dominant nonsyndromic hearing loss 5 | 1 | Mar 13, 2026 |
| Autosomal dominant nonsyndromic hearing loss 6 | 1 | Mar 13, 2026 |
| Autosomal dominant nonsyndromic hearing loss 7 | 2 | Feb 6, 2025 |
| Autosomal dominant optic atrophy classic form | 1 | Mar 13, 2026 |
| Autosomal recessive Alport syndrome | 2 | Mar 13, 2026 |
| Autosomal recessive ataxia, Beauce type | 1 | Dec 6, 2023 |
| Autosomal recessive early-onset Parkinson disease 6 | 1 | May 30, 2024 |
| Autosomal recessive hypophosphatemic bone disease | 1 | Mar 13, 2026 |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 1 | Mar 13, 2026 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 1 | Mar 13, 2026 |
| Autosomal recessive limb-girdle muscular dystrophy type 2E | 1 | Jul 30, 2026 |
| Autosomal recessive limb-girdle muscular dystrophy type 2I | 1 | Mar 13, 2026 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 1 | Apr 4, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2L | 2 | Aug 19, 2024 |
| Autosomal recessive nonsyndromic hearing loss 18B | 3 | Mar 13, 2026 |
| Autosomal recessive nonsyndromic hearing loss 1A | 9 | Mar 13, 2026 |
| Autosomal recessive nonsyndromic hearing loss 2 | 2 | Mar 13, 2026 |
| Autosomal recessive nonsyndromic hearing loss 21 | 4 | Feb 6, 2025 |
| Autosomal recessive nonsyndromic hearing loss 28 | 1 | Nov 9, 2023 |
| Autosomal recessive nonsyndromic hearing loss 3 | 3 | Mar 13, 2026 |
| Autosomal recessive nonsyndromic hearing loss 4 | 3 | Mar 13, 2026 |
| Autosomal recessive nonsyndromic hearing loss 42 | 4 | Mar 13, 2026 |
| Autosomal recessive nonsyndromic hearing loss 48 | 1 | May 10, 2023 |
| Autosomal recessive nonsyndromic hearing loss 67 | 1 | Mar 13, 2026 |
| Autosomal recessive nonsyndromic hearing loss 7 | 1 | May 15, 2024 |
| Autosomal recessive nonsyndromic hearing loss 77 | 2 | Mar 13, 2026 |
| Autosomal recessive nonsyndromic hearing loss 8 | 4 | Mar 13, 2026 |
| Autosomal recessive nonsyndromic hearing loss 84A | 1 | Jul 6, 2023 |
| Autosomal recessive nonsyndromic hearing loss 84B | 1 | Jan 21, 2025 |
| BAP1-related tumor predisposition syndrome | 1 | Mar 13, 2026 |
| Bardet-Biedl syndrome 5 | 1 | May 27, 2025 |
| Basal cell nevus syndrome 1 | 3 | Mar 13, 2026 |
| Becker muscular dystrophy | 2 | Mar 13, 2026 |
| Beta-thalassemia HBB/LCRB | 2 | Mar 13, 2026 |
| Bethlem myopathy 1A | 1 | Jun 30, 2026 |
| Bethlem myopathy 1B | 1 | Jul 30, 2024 |
| Bifunctional peroxisomal enzyme deficiency | 2 | Jan 30, 2026 |
| Biotinidase deficiency | 2 | Mar 13, 2026 |
| Birt-Hogg-Dube syndrome 1 | 2 | Jun 25, 2026 |
| Blepharophimosis - intellectual disability syndrome, SBBYS type | 1 | Jun 8, 2026 |
| Bohring-Opitz syndrome | 1 | Mar 13, 2026 |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | 1 | Feb 21, 2025 |
| Brain small vessel disease 2A, autosomal dominant | 2 | Mar 13, 2026 |
| Brain-lung-thyroid syndrome | 2 | Jun 3, 2026 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 12 | Dec 18, 2024 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 18 | Jun 5, 2025 |
| Breast-ovarian cancer, familial, susceptibility to, 3 | 3 | Sep 25, 2024 |
| Breast-ovarian cancer, familial, susceptibility to, 4 | 3 | Mar 13, 2026 |
| Breast-ovarian cancer, familial, susceptibility to, 5 | 5 | Sep 24, 2025 |
| Brooke-Spiegler syndrome | 1 | Mar 13, 2026 |
| Brugada syndrome 1 | 1 | Mar 13, 2026 |
| Brunner syndrome | 1 | Mar 13, 2026 |
| C1 inhibitor deficiency | 1 | Oct 30, 2025 |
| CHARGE syndrome | 1 | Aug 29, 2023 |
| CHD7-related CHARGE syndrome | 1 | Mar 13, 2026 |
| CHEK2-related cancer predisposition | 5 | Aug 6, 2025 |
| CTCF-related neurodevelopmental disorder | 1 | Apr 20, 2026 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 2 | Mar 13, 2026 |
| Cardiac, facial, and digital anomalies with developmental delay | 1 | Mar 13, 2026 |
| Cardiofaciocutaneous syndrome 1 | 1 | Apr 7, 2025 |
| Cardiofaciocutaneous syndrome 3 | 2 | Mar 13, 2026 |
| Carnitine palmitoyl transferase II deficiency, myopathic form | 2 | Mar 13, 2026 |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 1 | Mar 13, 2026 |
| Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | 1 | Mar 13, 2026 |
| Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | 1 | Oct 29, 2024 |
| Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 1 | Mar 13, 2026 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 5 | Aug 26, 2026 |
| Channelopathy-associated congenital insensitivity to pain, autosomal recessive | 1 | Jan 27, 2025 |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 3 | Mar 13, 2026 |
| Charcot-Marie-Tooth disease axonal type 2P | 1 | Mar 13, 2026 |
| Charcot-Marie-Tooth disease dominant intermediate B | 1 | Mar 13, 2026 |
| Charcot-Marie-Tooth disease dominant intermediate C | 1 | May 5, 2025 |
| Charcot-Marie-Tooth disease type 2A2 | 1 | Feb 20, 2025 |
| Charcot-Marie-Tooth disease type 4B3 | 1 | Jan 24, 2025 |
| Charcot-Marie-Tooth disease, type IA | 2 | Mar 13, 2026 |
| Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | 1 | Mar 13, 2023 |
| Chilton-Okur-Chung neurodevelopmental syndrome | 1 | Jan 2, 2025 |
| Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | 1 | Jul 3, 2026 |
| Cholestasis, progressive familial intrahepatic, 4 | 1 | Aug 25, 2022 |
| Cholestasis, progressive familial intrahepatic, 5 | 2 | May 20, 2025 |
| Cholestatic liver disease | 2 | Mar 13, 2026 |
| Chromosome 17q11.2 deletion syndrome, 1.4Mb | 1 | Mar 13, 2026 |
| Chromosome 22q11.2 microduplication syndrome | 1 | Mar 13, 2026 |
| Chromosome 2q32-q33 deletion syndrome | 2 | Mar 13, 2026 |
| Chronic infantile neurological, cutaneous and articular syndrome | 1 | Jul 16, 2026 |
| Ciliary dyskinesia, primary, 38 | 4 | Jun 5, 2026 |
| Cleidocranial dysostosis | 1 | Mar 13, 2026 |
| Coenzyme Q10 deficiency, primary, 1 | 2 | Mar 13, 2026 |
| Coffin-Siris syndrome 1 | 3 | Mar 13, 2026 |
| Coffin-Siris syndrome 10 | 1 | Feb 14, 2025 |
| Coffin-Siris syndrome 6 | 1 | Aug 3, 2026 |
| Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome | 1 | May 2, 2025 |
| Cohen syndrome | 1 | Sep 19, 2023 |
| Coloboma, ocular, autosomal dominant | 1 | Mar 13, 2026 |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 6 | Oct 2, 2024 |
| Combined PSAP deficiency | 1 | Jan 22, 2024 |
| Combined immunodeficiency due to LRBA deficiency | 3 | Oct 30, 2025 |
| Combined immunodeficiency, X-linked | 1 | Mar 13, 2026 |
| Complement component 2 deficiency | 2 | Mar 13, 2026 |
| Complement component 6 deficiency | 1 | Mar 13, 2026 |
| Complex cortical dysplasia with other brain malformations 1 | 2 | Mar 13, 2026 |
| Complex cortical dysplasia with other brain malformations 4 | 1 | Jul 30, 2024 |
| Complex neurodevelopmental disorder | 2 | Mar 13, 2026 |
| Cone-rod dystrophy 3 | 2 | Jul 30, 2024 |
| Congenital disorder of glycosylation, type IIw | 1 | Mar 13, 2026 |
| Congenital generalized lipodystrophy type 1 | 1 | Mar 13, 2026 |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 1 | Apr 7, 2025 |
| Congenital heart defects, multiple types, 2 | 1 | Mar 13, 2026 |
| Congenital multicore myopathy with external ophthalmoplegia | 1 | Oct 29, 2024 |
| Congenital myasthenic syndrome 19 | 1 | Mar 13, 2026 |
| Congenital myasthenic syndrome 5 | 1 | Apr 8, 2026 |
| Congenital myopathy 22B, severe fetal | 2 | Feb 17, 2025 |
| Congenital myotonia, autosomal dominant form | 1 | Mar 13, 2026 |
| Congenital myotonia, autosomal recessive form | 1 | Mar 13, 2026 |
| Cornelia de Lange syndrome 1 | 5 | Mar 13, 2026 |
| Cornelia de Lange syndrome 3 | 1 | Mar 13, 2026 |
| Cornelia de Lange syndrome 6 | 1 | Mar 13, 2026 |
| Cortical dysplasia, complex, with other brain malformations 9 | 1 | Sep 4, 2024 |
| Costello syndrome | 1 | Jun 12, 2025 |
| Cowden syndrome 1 | 3 | Mar 13, 2026 |
| Craniodiaphyseal dysplasia, autosomal dominant | 1 | Mar 13, 2026 |
| Craniofacial dysostosis | 1 | Mar 13, 2026 |
| Craniosynostosis 4 | 1 | Mar 13, 2026 |
| Cyclical neutropenia | 1 | Feb 13, 2023 |
| Cystic fibrosis | 8 | Jun 10, 2026 |
| Cystinuria | 2 | Mar 13, 2026 |
| Deafness dystonia syndrome | 2 | Sep 8, 2026 |
| Deficiency of acetyl-CoA acetyltransferase | 2 | Mar 13, 2026 |
| Deficiency of alpha-mannosidase | 1 | Jan 13, 2025 |
| Deficiency of galactokinase | 1 | Nov 15, 2024 |
| Deficiency of hydroxymethylglutaryl-CoA lyase | 1 | Feb 25, 2025 |
| Deletion of long arm of chromosome 18 | 1 | Mar 17, 2026 |
| Delpire-McNeill syndrome | 1 | Mar 13, 2026 |
| Dent disease type 1 | 1 | Mar 13, 2026 |
| Dermatitis, atopic, 2 | 2 | Mar 13, 2026 |
| Developmental and epileptic encephalopathy 94 | 1 | Mar 13, 2026 |
| Developmental and epileptic encephalopathy, 1 | 1 | Mar 13, 2026 |
| Developmental and epileptic encephalopathy, 11 | 1 | Jun 27, 2024 |
| Developmental and epileptic encephalopathy, 13 | 2 | Apr 16, 2026 |
| Developmental and epileptic encephalopathy, 14 | 1 | Nov 30, 2023 |
| Developmental and epileptic encephalopathy, 23 | 1 | Jun 12, 2024 |
| Developmental and epileptic encephalopathy, 28 | 1 | Mar 13, 2026 |
| Developmental and epileptic encephalopathy, 31A | 1 | Mar 13, 2026 |
| Developmental and epileptic encephalopathy, 32 | 1 | Mar 13, 2026 |
| Developmental and epileptic encephalopathy, 4 | 3 | Mar 13, 2026 |
| Developmental and epileptic encephalopathy, 42 | 1 | Mar 13, 2026 |
| Developmental and epileptic encephalopathy, 43 | 1 | Mar 13, 2026 |
| Developmental and epileptic encephalopathy, 46 | 1 | Jul 5, 2024 |
| Developmental and epileptic encephalopathy, 49 | 1 | Sep 14, 2023 |
| Developmental and epileptic encephalopathy, 5 | 1 | May 7, 2026 |
| Developmental and epileptic encephalopathy, 51 | 1 | Feb 7, 2025 |
| Developmental and epileptic encephalopathy, 54 | 1 | Jul 19, 2024 |
| Developmental and epileptic encephalopathy, 7 | 1 | Apr 3, 2025 |
| Developmental and epileptic encephalopathy, 79 | 1 | Jun 19, 2026 |
| Developmental and epileptic encephalopathy, 8 | 1 | Mar 18, 2026 |
| Developmental and epileptic encephalopathy, 85, with or without midline brain defects | 1 | Jun 13, 2024 |
| Developmental and epileptic encephalopathy, 87 | 1 | Mar 19, 2025 |
| Developmental and epileptic encephalopathy, 9 | 2 | Mar 13, 2026 |
| Developmental delay, behavioral abnormalities, and neuropsychiatric disorders | 1 | Apr 29, 2024 |
| Developmental delay, impaired speech, and behavioral abnormalities | 2 | Mar 13, 2026 |
| DiGeorge syndrome | 1 | Mar 13, 2026 |
| Diabetes mellitus, transient neonatal, 3 | 1 | Mar 13, 2026 |
| Diamond-Blackfan anemia 18 | 1 | Mar 13, 2026 |
| Dias-Logan syndrome | 2 | Apr 19, 2023 |
| Dilated cardiomyopathy 1A | 1 | Mar 13, 2026 |
| Dilated cardiomyopathy 1G | 8 | Mar 13, 2026 |
| Dilated cardiomyopathy 1S | 2 | May 15, 2025 |
| Dopa-responsive dystonia due to sepiapterin reductase deficiency | 1 | Jan 17, 2025 |
| Duane retraction syndrome 2 | 1 | Apr 22, 2026 |
| Dubin-Johnson syndrome | 2 | Mar 13, 2026 |
| Duchenne muscular dystrophy | 1 | Mar 13, 2026 |
| Dystonia 28, childhood-onset | 1 | Jan 17, 2025 |
| Dystonia 5 | 1 | Mar 13, 2026 |
| Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | 1 | Aug 25, 2025 |
| Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 1 | Mar 13, 2026 |
| Ehlers-Danlos syndrome, type 4 | 1 | Jan 15, 2025 |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 1 | Mar 13, 2026 |
| Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 1 | Mar 13, 2026 |
| Encephalopathy due to GLUT1 deficiency | 1 | Mar 13, 2026 |
| Epidermolysis bullosa simplex 1C, localized | 1 | Mar 13, 2026 |
| Epidermolysis bullosa, junctional 2B, severe | 1 | May 8, 2024 |
| Epidermolysis bullosa, junctional 3B, severe | 1 | Jun 20, 2024 |
| Epilepsy, familial focal, with variable foci 1 | 2 | Mar 13, 2026 |
| Epilepsy, familial focal, with variable foci 3 | 2 | Mar 13, 2026 |
| Episodic ataxia type 2 | 1 | Sep 12, 2022 |
| Episodic kinesigenic dyskinesia 1 | 2 | Mar 13, 2026 |
| Episodic pain syndrome, familial, 2 | 1 | Jun 10, 2024 |
| Euthyroid goiter | 1 | Jun 26, 2026 |
| Exostoses, multiple, type 1 | 8 | Mar 27, 2026 |
| Exostoses, multiple, type 2 | 3 | Mar 13, 2026 |
| Factor H deficiency | 1 | Mar 13, 2026 |
| Factor I deficiency | 1 | Mar 13, 2026 |
| Familial Mediterranean fever | 2 | Mar 13, 2026 |
| Familial Mediterranean fever, autosomal dominant | 4 | Mar 13, 2026 |
| Familial adenomatous polyposis 1 | 2 | Sep 9, 2025 |
| Familial adenomatous polyposis 2 | 1 | Aug 9, 2024 |
| Familial adenomatous polyposis 4 | 2 | Aug 15, 2024 |
| Familial cancer of breast | 20 | Sep 8, 2025 |
| Familial cold autoinflammatory syndrome 2 | 3 | Apr 12, 2024 |
| Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | 1 | Jul 8, 2026 |
| Familial infantile myasthenia | 1 | Jan 23, 2025 |
| Familial pulmonary capillary hemangiomatosis | 1 | Nov 30, 2023 |
| Familial visceral amyloidosis, Ostertag type | 1 | Mar 13, 2026 |
| Fanconi-Bickel syndrome | 1 | Mar 13, 2026 |
| Febrile seizures, familial, 8 | 1 | Oct 8, 2025 |
| Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome | 2 | Oct 10, 2024 |
| Freeman-Sheldon syndrome | 1 | Dec 6, 2023 |
| Frontotemporal dementia | 1 | Mar 13, 2026 |
| GM1 gangliosidosis type 2 | 1 | Mar 13, 2026 |
| Gastric adenocarcinoma and proximal polyposis of the stomach | 1 | Mar 13, 2026 |
| Generalized epilepsy with febrile seizures plus, type 2 | 4 | May 5, 2025 |
| Generalized myoclonic-atonic seizure | 1 | Apr 29, 2025 |
| Glaucoma 3A | 2 | Mar 13, 2026 |
| Global developmental delay with or without impaired intellectual development | 1 | Mar 13, 2026 |
| Global developmental delay with speech and behavioral abnormalities | 2 | Jun 10, 2026 |
| Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | 1 | Jul 12, 2023 |
| Glutaric aciduria, type 1 | 1 | Sep 5, 2024 |
| Glycine encephalopathy 2 | 1 | Mar 13, 2026 |
| Glycogen storage disease IXa1 | 2 | Mar 13, 2026 |
| Glycogen storage disease, type II | 4 | Mar 13, 2026 |
| Glycogen storage disease, type V | 3 | Mar 13, 2026 |
| Granulomatous disease, chronic, X-linked | 2 | Mar 13, 2026 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 | 1 | Mar 13, 2026 |
| HSD10 mitochondrial disease | 1 | Apr 7, 2026 |
| Hajdu-Cheney syndrome | 1 | Jan 17, 2025 |
| Hao-Fountain syndrome | 1 | May 15, 2023 |
| Hao-Fountain syndrome due to USP7 mutation | 1 | Mar 13, 2026 |
| Harel-Yoon syndrome | 1 | Aug 25, 2022 |
| Hearing loss, autosomal recessive | 1 | Nov 18, 2025 |
| Hearing loss, autosomal recessive 111 | 1 | Mar 13, 2026 |
| Hematuria, benign familial, 1 | 1 | Mar 13, 2026 |
| Hemochromatosis type 1 | 2 | Mar 13, 2026 |
| Hepatic methionine adenosyltransferase deficiency | 3 | Mar 13, 2026 |
| Hereditary angioedema type 1 | 1 | Jul 30, 2024 |
| Hereditary diffuse gastric adenocarcinoma | 3 | Sep 4, 2024 |
| Hereditary hemorrhagic telangiectasia | 1 | Jan 20, 2023 |
| Hereditary pancreatitis | 6 | Mar 13, 2026 |
| Hereditary spastic paraplegia 11 | 1 | Jan 28, 2025 |
| Hereditary spastic paraplegia 12 | 1 | Jul 30, 2024 |
| Hereditary spastic paraplegia 39 | 1 | Apr 1, 2025 |
| Hereditary spastic paraplegia 4 | 4 | Mar 13, 2026 |
| Hereditary spastic paraplegia 48 | 1 | Mar 21, 2025 |
| Hereditary spastic paraplegia 7 | 2 | Mar 31, 2025 |
| Hereditary spastic paraplegia 8 | 1 | Apr 8, 2025 |
| Hereditary spherocytosis type 2 | 1 | Mar 13, 2026 |
| Hernia, anterior diaphragmatic | 1 | Sep 23, 2024 |
| Heterotopia, periventricular, X-linked dominant | 3 | Jul 17, 2026 |
| Holt-Oram syndrome | 1 | Jan 24, 2025 |
| Houge-Janssens syndrome 1 | 1 | May 22, 2023 |
| Hyper-IgE recurrent infection syndrome 1, autosomal dominant | 1 | Mar 13, 2026 |
| Hyper-IgM syndrome type 2 | 1 | May 26, 2025 |
| Hypercholanemia, familial, 2 | 1 | Jul 31, 2026 |
| Hypercholesterolemia, familial, 1 | 1 | Jun 12, 2024 |
| Hyperimmunoglobulin D with periodic fever | 2 | Mar 13, 2026 |
| Hyperinsulinemic hypoglycemia, familial, 1 | 1 | Jun 20, 2025 |
| Hyperlipidemia, familial combined, LPL related | 1 | Aug 21, 2024 |
| Hyperphosphatasia with intellectual disability syndrome 1 | 3 | Mar 13, 2026 |
| Hypertriglyceridemia 2 | 1 | Aug 21, 2024 |
| Hypertrophic cardiomyopathy 1 | 5 | Mar 13, 2026 |
| Hypertrophic cardiomyopathy 2 | 1 | Apr 3, 2025 |
| Hypertrophic cardiomyopathy 26 | 1 | Nov 14, 2024 |
| Hypertrophic cardiomyopathy 4 | 3 | Mar 13, 2026 |
| Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 | 1 | Jun 25, 2024 |
| Hypogonadotropic hypogonadism 6 with or without anosmia | 2 | Jun 10, 2024 |
| Hypohidrotic X-linked ectodermal dysplasia | 1 | Dec 16, 2025 |
| Hypokalemic periodic paralysis, type 1 | 2 | Feb 12, 2025 |
| Hypokalemic periodic paralysis, type 2 | 1 | Mar 13, 2026 |
| Hypomyelination with brain stem and spinal cord involvement and leg spasticity | 1 | Aug 25, 2022 |
| Hypoparathyroidism, deafness, renal disease syndrome | 2 | Mar 13, 2026 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 1 | Jun 16, 2023 |
| Imerslund-Grasbeck syndrome type 2 | 1 | Mar 13, 2026 |
| Immunodeficiency 14 | 1 | Mar 13, 2026 |
| Immunodeficiency 39 | 1 | Aug 24, 2023 |
| Immunodeficiency, common variable, 12 | 3 | Mar 13, 2026 |
| Immunodeficiency, common variable, 14 | 2 | Mar 13, 2026 |
| Immunodeficiency, common variable, 2 | 2 | May 22, 2025 |
| Infantile liver failure syndrome 2 | 2 | Mar 13, 2026 |
| Inflammatory bowel disease 28 | 1 | Feb 13, 2023 |
| Intellectual developmental disorder 61 | 3 | Mar 13, 2026 |
| Intellectual developmental disorder with autism and macrocephaly | 2 | Sep 6, 2024 |
| Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures | 1 | Mar 13, 2026 |
| Intellectual developmental disorder with cardiac defects and dysmorphic facies | 2 | Oct 28, 2024 |
| Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 2 | May 8, 2026 |
| Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | 1 | Jan 3, 2025 |
| Intellectual developmental disorder, autosomal dominant 67 | 1 | Mar 13, 2026 |
| Intellectual developmental disorder, autosomal recessive 74 | 1 | Jul 30, 2024 |
| Intellectual disability, X-linked 21 | 1 | Feb 6, 2025 |
| Intellectual disability, X-linked 72 | 1 | Feb 28, 2025 |
| Intellectual disability, X-linked 90 | 1 | Jun 14, 2024 |
| Intellectual disability, X-linked 93 | 1 | Jan 17, 2025 |
| Intellectual disability, X-linked 99, syndromic, female-restricted | 1 | Mar 13, 2026 |
| Intellectual disability, X-linked syndromic, Turner type | 2 | Mar 13, 2026 |
| Intellectual disability, X-linked, syndromic, Houge type | 1 | Mar 12, 2025 |
| Intellectual disability, autosomal dominant 14 | 1 | Apr 30, 2026 |
| Intellectual disability, autosomal dominant 22 | 1 | Jul 31, 2026 |
| Intellectual disability, autosomal dominant 24 | 1 | Mar 26, 2025 |
| Intellectual disability, autosomal dominant 33 | 1 | Mar 13, 2026 |
| Intellectual disability, autosomal dominant 39 | 2 | Jun 5, 2026 |
| Intellectual disability, autosomal dominant 43 | 1 | Mar 13, 2026 |
| Intellectual disability, autosomal dominant 45 | 5 | Mar 13, 2026 |
| Intellectual disability, autosomal dominant 5 | 3 | Apr 16, 2026 |
| Intellectual disability, autosomal dominant 50 | 1 | Mar 13, 2026 |
| Intellectual disability, autosomal dominant 53 | 1 | Mar 27, 2026 |
| Intellectual disability, autosomal recessive 1 | 1 | May 3, 2023 |
| Intellectual disability, autosomal recessive 13 | 1 | Jan 16, 2025 |
| Intellectual disability, autosomal recessive 51 | 1 | Mar 13, 2026 |
| Intellectual disability, autosomal recessive 65 | 2 | Oct 25, 2024 |
| Intellectual disability-epilepsy-extrapyramidal syndrome | 1 | Mar 13, 2026 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 1 | Feb 3, 2025 |
| Intellectual disability-hypotonia-spasticity-sleep disorder syndrome | 6 | May 21, 2026 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 1 | Mar 13, 2026 |
| Intellectual disability-strabismus syndrome | 1 | Sep 29, 2022 |
| Interstitial lung disease 2 | 1 | Mar 13, 2026 |
| Interstitial lung disease due to ABCA3 deficiency | 2 | Mar 21, 2024 |
| Intestinal hypomagnesemia 1 | 1 | Aug 29, 2024 |
| Isovaleryl-CoA dehydrogenase deficiency | 2 | Mar 13, 2026 |
| Joubert syndrome 37 | 1 | Sep 4, 2024 |
| KBG syndrome | 9 | Mar 13, 2026 |
| Kartagener syndrome | 6 | Jun 5, 2026 |
| Keratosis follicularis | 1 | Jul 30, 2024 |
| Kleefstra syndrome 2 | 3 | May 7, 2026 |
| Koolen-de Vries syndrome | 3 | Mar 13, 2026 |
| Kostmann syndrome | 1 | Mar 13, 2026 |
| L-2-hydroxyglutaric aciduria | 3 | Mar 13, 2026 |
| LZTR1-related schwannomatosis | 1 | Jul 24, 2025 |
| Lamb-Shaffer syndrome | 2 | Mar 13, 2026 |
| Larsen syndrome | 1 | Jan 30, 2026 |
| Leber congenital amaurosis 1 | 1 | Jul 31, 2026 |
| Leber optic atrophy | 1 | May 27, 2026 |
| Left ventricular noncompaction 10 | 1 | May 26, 2025 |
| Leigh syndrome | 1 | Mar 13, 2026 |
| Lethal congenital contracture syndrome 11 | 1 | May 12, 2026 |
| Leukocyte adhesion deficiency 1 | 1 | Mar 13, 2026 |
| Leukodystrophy, hypomyelinating, 6 | 1 | Mar 13, 2026 |
| Leukodystrophy, hypomyelinating, 9 | 1 | Jan 9, 2024 |
| Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | 1 | Mar 27, 2024 |
| Leukoencephalopathy, diffuse hereditary, with spheroids 1 | 1 | Apr 7, 2025 |
| Li-Fraumeni syndrome 1 | 1 | Apr 12, 2023 |
| Lissencephaly due to TUBA1A mutation | 1 | Mar 13, 2026 |
| Lissencephaly type 1 due to doublecortin gene mutation | 1 | Sep 4, 2024 |
| Long QT syndrome 1 | 2 | Mar 13, 2026 |
| Long QT syndrome 2 | 3 | Mar 13, 2026 |
| Long QT syndrome 3 | 1 | Apr 11, 2025 |
| Long QT syndrome 8 | 1 | Mar 13, 2026 |
| Lopes-Maciel-Rodan syndrome | 1 | Jun 11, 2024 |
| Lynch syndrome 1 | 5 | Oct 14, 2025 |
| Lynch syndrome 4 | 1 | Jun 7, 2024 |
| Lynch syndrome 5 | 4 | Sep 4, 2024 |
| MASA syndrome | 1 | May 21, 2025 |
| MEHMO syndrome | 1 | Nov 4, 2024 |
| MHC class II deficiency 1 | 1 | Mar 13, 2026 |
| Macrocephaly, acquired, with impaired intellectual development | 1 | Mar 13, 2026 |
| Macrocephaly-autism syndrome | 1 | Jan 9, 2025 |
| Majeed syndrome | 3 | Nov 3, 2025 |
| Maleylacetoacetate isomerase deficiency | 1 | Mar 13, 2026 |
| Malignant hyperthermia, susceptibility to, 1 | 3 | Mar 13, 2026 |
| Maple syrup urine disease type 1A | 1 | Mar 13, 2026 |
| Marfan syndrome | 7 | Mar 13, 2026 |
| Maturity-onset diabetes of the young type 2 | 1 | Mar 13, 2026 |
| Maturity-onset diabetes of the young type 3 | 1 | Aug 30, 2024 |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 5 | Mar 13, 2026 |
| Melanoma, cutaneous malignant, susceptibility to, 2 | 2 | Mar 13, 2026 |
| Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | 1 | Jun 6, 2025 |
| Menke-Hennekam syndrome 1 | 1 | Feb 14, 2023 |
| Metachromatic leukodystrophy | 1 | Mar 13, 2026 |
| Methylmalonic aciduria, cblA type | 5 | Mar 13, 2026 |
| Microcephalic primordial dwarfism, Alazami type | 1 | Jun 15, 2023 |
| Microcephaly 5, primary, autosomal recessive | 1 | May 21, 2026 |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 2 | Mar 13, 2026 |
| Microcephaly, developmental delay, and brittle hair syndrome | 1 | Jul 22, 2024 |
| Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 2 | Feb 14, 2025 |
| Microphthalmia, syndromic 12 | 1 | May 20, 2026 |
| Mitochondrial complex III deficiency nuclear type 3 | 1 | Feb 4, 2026 |
| Mitochondrial complex IV deficiency, nuclear type 1 | 2 | Mar 13, 2026 |
| Mitochondrial myopathy-lactic acidosis-deafness syndrome | 1 | Jul 30, 2024 |
| Monocytopenia with susceptibility to infections | 1 | Jun 28, 2024 |
| Monosomy 7 myelodysplasia and leukemia syndrome 1 | 1 | Jun 12, 2024 |
| Mowat-Wilson syndrome | 1 | Mar 13, 2026 |
| Mucocutaneous ulceration, chronic | 1 | Mar 13, 2026 |
| Mucopolysaccharidosis type 6 | 1 | Mar 13, 2026 |
| Mucopolysaccharidosis, MPS-II | 1 | Mar 13, 2026 |
| Mucopolysaccharidosis, MPS-III-A | 3 | Mar 13, 2026 |
| Mucopolysaccharidosis, MPS-III-B | 1 | Mar 13, 2026 |
| Mullegama-Klein-Martinez syndrome | 1 | Oct 8, 2024 |
| Multiple acyl-CoA dehydrogenase deficiency | 2 | Jan 22, 2025 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 2 | Mar 13, 2026 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 2 | Mar 13, 2026 |
| Multiple endocrine neoplasia, type 1 | 1 | Apr 26, 2024 |
| Muscular dystrophy, limb-girdle, autosomal dominant 4 | 1 | Mar 13, 2026 |
| Myoclonic epilepsy of Lafora 1 | 1 | Mar 13, 2026 |
| Myofibrillar myopathy 5 | 1 | Mar 13, 2026 |
| Nance-Horan syndrome | 1 | Jun 30, 2026 |
| Nephronophthisis 1 | 1 | Mar 13, 2026 |
| Nephrotic syndrome, type 2 | 1 | Mar 13, 2026 |
| Neurodegeneration with brain iron accumulation 5 | 1 | May 6, 2025 |
| Neurodevelopmental disorder with alopecia and brain abnormalities | 1 | Mar 13, 2026 |
| Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | 1 | Sep 6, 2024 |
| Neurodevelopmental disorder with hypotonia and brain abnormalities | 1 | Jan 2, 2025 |
| Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | 1 | Mar 13, 2026 |
| Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language | 1 | Dec 3, 2025 |
| Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities | 1 | Mar 13, 2026 |
| Neurodevelopmental disorder with or without autism or seizures | 1 | Mar 13, 2026 |
| Neurodevelopmental disorder with or without early-onset generalized epilepsy | 2 | Mar 13, 2026 |
| Neurodevelopmental disorder with speech impairment and with or without seizures | 1 | May 19, 2025 |
| Neurofibromatosis, type 1 | 16 | Jun 22, 2026 |
| Neurofibromatosis, type 2 | 1 | Jul 24, 2025 |
| Neurofibromatosis-Noonan syndrome | 1 | Mar 13, 2026 |
| Neuronal ceroid lipofuscinosis 1 | 2 | Feb 19, 2025 |
| Neuronopathy, distal hereditary motor, autosomal recessive 5 | 1 | Mar 24, 2023 |
| Neuronopathy, distal hereditary motor, autosomal recessive 8 | 1 | Mar 13, 2026 |
| Neutropenia, severe congenital, 1, autosomal dominant | 1 | Mar 13, 2026 |
| Neutrophil immunodeficiency syndrome | 1 | Nov 20, 2024 |
| Noonan syndrome 1 | 3 | Mar 13, 2026 |
| Noonan syndrome 3 | 1 | Mar 13, 2026 |
| Noonan syndrome 4 | 1 | Feb 26, 2025 |
| Noonan syndrome 8 | 3 | Jul 3, 2026 |
| Noonan syndrome-like disorder with loose anagen hair 1 | 1 | Mar 13, 2026 |
| O'Donnell-Luria-Rodan syndrome | 1 | Aug 15, 2022 |
| Oculocutaneous albinism type 1B | 2 | Mar 13, 2026 |
| Odonto-onycho-dermal dysplasia | 1 | Jun 20, 2024 |
| Okur-Chung neurodevelopmental syndrome | 1 | May 21, 2025 |
| Ornithine carbamoyltransferase deficiency | 1 | Mar 13, 2026 |
| Oroticaciduria | 1 | Jan 16, 2024 |
| Osteogenesis imperfecta type 7 | 1 | Jan 13, 2025 |
| Osteogenesis imperfecta type I | 2 | Jan 13, 2025 |
| Osteogenesis imperfecta with normal sclerae, dominant form | 1 | May 27, 2026 |
| Otospondylomegaepiphyseal dysplasia, autosomal recessive | 1 | Oct 23, 2024 |
| PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 2 | Feb 26, 2025 |
| PMM2-congenital disorder of glycosylation | 2 | Mar 13, 2026 |
| PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 1 | May 18, 2026 |
| Pancreatic agenesis 2 | 2 | Mar 13, 2026 |
| Pancreatic cancer, susceptibility to, 2 | 2 | Jun 10, 2024 |
| Pancreatic cancer, susceptibility to, 4 | 1 | Oct 11, 2024 |
| Pancytopenia due to IKZF1 mutations | 1 | Mar 13, 2026 |
| Papillary renal cell carcinoma type 1 | 1 | Aug 27, 2024 |
| Parenti-mignot neurodevelopmental syndrome | 2 | Mar 13, 2026 |
| Partial 13q deletion | 1 | Mar 13, 2026 |
| Partial 18p monosomy with 18q trisomy | 1 | Mar 13, 2026 |
| Pendred syndrome | 1 | Mar 13, 2026 |
| Periodic fever-infantile enterocolitis-autoinflammatory syndrome | 1 | Nov 14, 2024 |
| Peroxisome biogenesis disorder 1A (Zellweger) | 1 | Oct 16, 2023 |
| Peroxisome biogenesis disorder 5A (Zellweger) | 1 | Apr 1, 2025 |
| Peroxisome biogenesis disorder 7A (Zellweger) | 2 | Feb 19, 2026 |
| Perrault syndrome 5 | 2 | Mar 13, 2026 |
| Peutz-Jeghers syndrome | 1 | Jul 15, 2024 |
| Phenylketonuria | 16 | Mar 13, 2026 |
| Pheochromocytoma/paraganglioma syndrome 1 | 1 | Sep 26, 2024 |
| Pheochromocytoma/paraganglioma syndrome 5 | 3 | Jul 29, 2025 |
| Piebald skin depigmentation | 1 | Nov 9, 2023 |
| Pleuropulmonary blastoma | 1 | Apr 19, 2026 |
| Polycystic kidney disease 2 | 9 | Mar 13, 2026 |
| Polycystic kidney disease 3 with or without polycystic liver disease | 2 | Jan 7, 2026 |
| Polycystic kidney disease, adult type | 30 | Mar 13, 2026 |
| Primary ciliary dyskinesia 11 | 5 | Jun 5, 2026 |
| Primary ciliary dyskinesia 14 | 3 | Mar 13, 2026 |
| Primary ciliary dyskinesia 15 | 5 | Jun 5, 2026 |
| Primary ciliary dyskinesia 20 | 2 | Mar 13, 2026 |
| Primary ciliary dyskinesia 21 | 3 | Nov 18, 2025 |
| Primary ciliary dyskinesia 22 | 6 | Mar 13, 2026 |
| Primary ciliary dyskinesia 23 | 3 | Apr 8, 2026 |
| Primary ciliary dyskinesia 24 | 2 | Apr 23, 2025 |
| Primary ciliary dyskinesia 25 | 1 | Aug 15, 2023 |
| Primary ciliary dyskinesia 28 | 2 | Mar 13, 2026 |
| Primary ciliary dyskinesia 29 | 1 | Mar 13, 2026 |
| Primary ciliary dyskinesia 3 | 13 | Jun 3, 2026 |
| Primary ciliary dyskinesia 32 | 1 | Jul 18, 2024 |
| Primary ciliary dyskinesia 35 | 3 | Mar 13, 2026 |
| Primary ciliary dyskinesia 5 | 3 | Apr 8, 2026 |
| Primary ciliary dyskinesia 7 | 11 | Aug 19, 2026 |
| Primary ciliary dyskinesia 9 | 1 | Jan 30, 2024 |
| Primary dilated cardiomyopathy | 1 | Mar 13, 2026 |
| Progressive familial intrahepatic cholestasis type 1 | 3 | Mar 13, 2026 |
| Progressive familial intrahepatic cholestasis type 2 | 1 | Mar 13, 2026 |
| Progressive familial intrahepatic cholestasis type 3 | 1 | Mar 13, 2026 |
| Progressive sclerosing poliodystrophy | 2 | May 6, 2025 |
| Proline dehydrogenase deficiency | 1 | Jan 20, 2025 |
| Propionic acidemia | 1 | Mar 13, 2026 |
| Protoporphyria, erythropoietic, 1 | 4 | Mar 13, 2026 |
| Proximal 16p11.2 microdeletion syndrome | 1 | Mar 13, 2026 |
| Pseudohypoaldosteronism, type IB1, autosomal recessive | 1 | May 12, 2025 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | 3 | Jul 8, 2026 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | 1 | Mar 13, 2026 |
| Pulmonary hypertension, primary, 1 | 1 | Jun 11, 2024 |
| Pulmonary hypertension, primary, 7 | 4 | Aug 25, 2026 |
| Pyogenic bacterial infections due to MyD88 deficiency | 1 | Mar 13, 2026 |
| Pyridoxine-dependent epilepsy | 3 | Mar 13, 2026 |
| Pyruvate dehydrogenase E1-alpha deficiency | 1 | Mar 13, 2026 |
| Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | 1 | Sep 12, 2024 |
| Recessive dystrophic epidermolysis bullosa | 4 | Jul 29, 2026 |
| Renal carnitine transport defect | 1 | Jul 18, 2024 |
| Renal tubular dysgenesis of genetic origin | 1 | Sep 27, 2024 |
| Retinitis pigmentosa 1 | 2 | Mar 13, 2026 |
| Rett syndrome | 5 | Mar 13, 2026 |
| Roifman syndrome | 6 | Mar 13, 2026 |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 1 | Mar 4, 2025 |
| SHORT syndrome | 1 | Sep 14, 2023 |
| STAT3-related early-onset multisystem autoimmune disease | 1 | Mar 13, 2026 |
| STING-associated vasculopathy with onset in infancy | 2 | Mar 13, 2026 |
| Seizures, benign familial infantile, 2 | 1 | Mar 13, 2026 |
| Seizures, benign familial neonatal, 1 | 1 | Mar 13, 2026 |
| Severe X-linked myotubular myopathy | 1 | Apr 28, 2023 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 1 | Mar 13, 2026 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | 2 | Mar 13, 2026 |
| Severe early-childhood-onset retinal dystrophy | 5 | Mar 13, 2026 |
| Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | 2 | Mar 13, 2026 |
| Severe intellectual disability-progressive spastic diplegia syndrome | 1 | Feb 12, 2025 |
| Severe myoclonic epilepsy in infancy | 4 | Mar 13, 2026 |
| Shwachman-Diamond syndrome 1 | 1 | Sep 11, 2025 |
| Sialidosis type 2 | 1 | Jul 8, 2024 |
| Skeletal dysplasia | 1 | Mar 13, 2026 |
| Smith-Lemli-Opitz syndrome | 2 | Mar 13, 2026 |
| Snijders Blok-Campeau syndrome | 1 | Jan 28, 2025 |
| Sotos syndrome | 1 | Jan 6, 2025 |
| Spastic paraplegia 72b, autosomal recessive | 1 | Jun 2, 2026 |
| Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia | 1 | Mar 13, 2026 |
| Spinocerebellar ataxia 27A | 1 | Mar 13, 2026 |
| Spinocerebellar ataxia 47 | 1 | Mar 13, 2026 |
| Spinocerebellar ataxia 48 | 1 | Jun 11, 2024 |
| Spinocerebellar ataxia type 15/16 | 1 | Mar 13, 2026 |
| Spinocerebellar ataxia type 5 | 1 | Jan 2, 2025 |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 1 | Mar 31, 2025 |
| Spondylocostal dysostosis 1, autosomal recessive | 1 | Jun 28, 2023 |
| Stankiewicz-Isidor syndrome | 1 | Mar 13, 2026 |
| Stickler syndrome type 1 | 1 | Mar 13, 2026 |
| Stuve-Wiedemann syndrome 2 | 4 | Aug 9, 2023 |
| Succinate-semialdehyde dehydrogenase deficiency | 1 | Mar 13, 2026 |
| Sucrase-isomaltase deficiency | 1 | Mar 24, 2023 |
| Supravalvar aortic stenosis | 2 | Mar 13, 2026 |
| Surfactant metabolism dysfunction, pulmonary, 1 | 1 | Oct 25, 2024 |
| Surfactant metabolism dysfunction, pulmonary, 2 | 2 | Mar 13, 2026 |
| Surfactant metabolism dysfunction, pulmonary, 4 | 1 | Mar 13, 2026 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 1 | Apr 2, 2025 |
| Syndromic X-linked intellectual disability Najm type | 1 | Mar 13, 2026 |
| T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant | 1 | Mar 13, 2026 |
| TCF12-related craniosynostosis | 1 | Apr 7, 2025 |
| TNF receptor-associated periodic fever syndrome (TRAPS) | 1 | Mar 13, 2026 |
| Telangiectasia, hereditary hemorrhagic, type 2 | 5 | Aug 3, 2026 |
| Tooth agenesis, selective, 1 | 1 | Mar 13, 2026 |
| Tremor, hereditary essential, 5 | 1 | Jul 30, 2024 |
| Trichorhinophalangeal dysplasia type I | 1 | Mar 13, 2026 |
| Tuberous sclerosis 1 | 2 | Mar 13, 2026 |
| Tuberous sclerosis 2 | 2 | Mar 13, 2026 |
| Tyrosinase-positive oculocutaneous albinism | 1 | Jan 13, 2025 |
| Usher syndrome type 1C | 1 | Mar 13, 2026 |
| Usher syndrome type 2A | 2 | Mar 13, 2026 |
| Usmani-Riazuddin syndrome, autosomal recessive | 1 | Jul 24, 2023 |
| Van der Woude syndrome 1 | 1 | Mar 13, 2026 |
| Variegate porphyria | 2 | Apr 3, 2025 |
| Very long chain acyl-CoA dehydrogenase deficiency | 4 | Mar 13, 2026 |
| Vissers-Bodmer syndrome | 1 | Mar 13, 2026 |
| Waardenburg syndrome type 1 | 2 | Jan 20, 2025 |
| Waardenburg syndrome type 4A | 1 | May 28, 2024 |
| Warsaw breakage syndrome | 1 | Apr 20, 2026 |
| Weiss-Kruszka syndrome | 1 | Mar 13, 2026 |
| Williams syndrome | 1 | Mar 13, 2026 |
| Wilson disease | 8 | Mar 13, 2026 |
| Wiskott-Aldrich syndrome | 1 | Mar 13, 2026 |
| X-linked Alport syndrome | 4 | Mar 13, 2026 |
| X-linked agammaglobulinemia | 7 | Mar 13, 2026 |
| X-linked dyserythropoetic anemia with abnormal platelets and neutropenia | 1 | Mar 13, 2026 |
| X-linked ichthyosis with steryl-sulfatase deficiency | 1 | Mar 13, 2026 |
| X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | 3 | Mar 13, 2026 |
| X-linked lymphoproliferative disease due to SH2D1A deficiency | 1 | Mar 13, 2026 |
| X-linked lymphoproliferative disease due to XIAP deficiency | 1 | Mar 13, 2026 |
| X-linked mixed hearing loss with perilymphatic gusher | 1 | Mar 13, 2026 |
| ZTTK syndrome | 1 | Mar 13, 2026 |
| alpha Thalassemia | 1 | Mar 13, 2026 |
