| 3-Methylglutaconic aciduria type 2 | 1 | Feb 14, 2025 |
| ACTH-independent macronodular adrenal hyperplasia 2 | 1 | Jul 3, 2024 |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 1 | May 19, 2023 |
| Abetalipoproteinaemia | 1 | Feb 20, 2023 |
| Acrodermatitis continua suppurativa of Hallopeau | 1 | Sep 13, 2023 |
| Actin accumulation myopathy | 1 | Mar 13, 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 | 1 | Jun 18, 2024 |
| Alopecia universalis congenita | 1 | Aug 17, 2022 |
| Amyotrophic lateral sclerosis | 1 | Aug 30, 2024 |
| Amyotrophic lateral sclerosis type 22 | 1 | Sep 16, 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 9 | 1 | Feb 7, 2025 |
| Asphyxiating thoracic dystrophy 3 | 1 | Apr 14, 2023 |
| Ataxia-telangiectasia syndrome | 1 | Jun 11, 2024 |
| Autism spectrum disorder due to AUTS2 deficiency | 1 | Oct 13, 2022 |
| Autism, susceptibility to, 17 | 1 | May 12, 2023 |
| 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 |
| Autosomal dominant nonsyndromic hearing loss 2A | 1 | Aug 26, 2024 |
| Autosomal dominant nonsyndromic hearing loss 7 | 2 | Feb 6, 2025 |
| Autosomal recessive ataxia, Beauce type | 1 | Dec 6, 2023 |
| Autosomal recessive early-onset Parkinson disease 6 | 1 | May 30, 2024 |
| 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 | 1 | Apr 10, 2024 |
| 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 4 | 2 | Apr 16, 2025 |
| Autosomal recessive nonsyndromic hearing loss 42 | 2 | May 7, 2025 |
| Autosomal recessive nonsyndromic hearing loss 48 | 1 | May 10, 2023 |
| Autosomal recessive nonsyndromic hearing loss 7 | 1 | May 15, 2024 |
| Autosomal recessive nonsyndromic hearing loss 8 | 1 | Apr 27, 2023 |
| Autosomal recessive nonsyndromic hearing loss 84A | 1 | Jul 6, 2023 |
| Autosomal recessive nonsyndromic hearing loss 84B | 1 | Jan 21, 2025 |
| Bardet-Biedl syndrome 5 | 1 | May 27, 2025 |
| Bethlem myopathy 1B | 1 | Jul 30, 2024 |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | 1 | Feb 21, 2025 |
| Brain-lung-thyroid syndrome | 1 | Nov 20, 2024 |
| 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 | 2 | Mar 3, 2023 |
| Breast-ovarian cancer, familial, susceptibility to, 5 | 4 | Jan 7, 2025 |
| CHARGE syndrome | 1 | Aug 29, 2023 |
| CHEK2-related cancer predisposition | 4 | Nov 29, 2024 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 1 | Feb 22, 2023 |
| Cardiofaciocutaneous syndrome 1 | 1 | Apr 7, 2025 |
| Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | 1 | Oct 29, 2024 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 2 | Jan 7, 2025 |
| Channelopathy-associated congenital insensitivity to pain, autosomal recessive | 1 | Jan 27, 2025 |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 2 | Feb 27, 2025 |
| 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 | 1 | Jul 30, 2024 |
| Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | 1 | Mar 13, 2023 |
| Chilton-Okur-Chung neurodevelopmental syndrome | 1 | Jan 2, 2025 |
| Cholestasis, progressive familial intrahepatic, 4 | 1 | Aug 25, 2022 |
| Cholestasis, progressive familial intrahepatic, 5 | 2 | May 20, 2025 |
| Chromosome 2q32-q33 deletion syndrome | 1 | Sep 20, 2024 |
| Ciliary dyskinesia, primary, 38 | 1 | Sep 18, 2024 |
| Coffin-Siris syndrome 1 | 2 | Nov 30, 2023 |
| Coffin-Siris syndrome 10 | 1 | Feb 14, 2025 |
| Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome | 1 | May 2, 2025 |
| Cohen syndrome | 1 | Sep 19, 2023 |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 6 | Oct 2, 2024 |
| Combined PSAP deficiency | 1 | Jan 22, 2024 |
| Combined immunodeficiency due to LRBA deficiency | 2 | Aug 5, 2024 |
| Complement component 2 deficiency | 1 | Jun 27, 2025 |
| Complex cortical dysplasia with other brain malformations 4 | 1 | Jul 30, 2024 |
| Cone-rod dystrophy 3 | 2 | Jul 30, 2024 |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 1 | Apr 7, 2025 |
| Congenital multicore myopathy with external ophthalmoplegia | 1 | Oct 29, 2024 |
| Congenital myopathy 22B, severe fetal | 2 | Feb 17, 2025 |
| Cornelia de Lange syndrome 1 | 2 | Feb 28, 2025 |
| Cortical dysplasia, complex, with other brain malformations 9 | 1 | Sep 4, 2024 |
| Costello syndrome | 1 | Jun 12, 2025 |
| Cowden syndrome 1 | 1 | Jun 21, 2024 |
| Cyclical neutropenia | 1 | Feb 13, 2023 |
| Cystic fibrosis | 1 | Apr 18, 2023 |
| Deficiency of alpha-mannosidase | 1 | Jan 13, 2025 |
| Deficiency of galactokinase | 1 | Nov 15, 2024 |
| Deficiency of hydroxymethylglutaryl-CoA lyase | 1 | Feb 25, 2025 |
| Developmental and epileptic encephalopathy, 11 | 1 | Jun 27, 2024 |
| Developmental and epileptic encephalopathy, 13 | 1 | Jan 6, 2025 |
| Developmental and epileptic encephalopathy, 14 | 1 | Nov 30, 2023 |
| Developmental and epileptic encephalopathy, 23 | 1 | Jun 12, 2024 |
| Developmental and epileptic encephalopathy, 46 | 1 | Jul 5, 2024 |
| Developmental and epileptic encephalopathy, 49 | 1 | Sep 14, 2023 |
| 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, 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 | 1 | Jul 31, 2023 |
| Developmental delay, behavioral abnormalities, and neuropsychiatric disorders | 1 | Apr 29, 2024 |
| Developmental delay, impaired speech, and behavioral abnormalities | 1 | Apr 21, 2023 |
| Dias-Logan syndrome | 2 | Apr 19, 2023 |
| Dilated cardiomyopathy 1G | 3 | Apr 2, 2025 |
| Dilated cardiomyopathy 1S | 2 | May 15, 2025 |
| Dopa-responsive dystonia due to sepiapterin reductase deficiency | 1 | Jan 17, 2025 |
| Dystonia 28, childhood-onset | 1 | Jan 17, 2025 |
| Ehlers-Danlos syndrome, type 4 | 1 | Jan 15, 2025 |
| Epidermolysis bullosa, junctional 2B, severe | 1 | May 8, 2024 |
| Epidermolysis bullosa, junctional 3B, severe | 1 | Jun 20, 2024 |
| Epilepsy with myoclonic atonic seizures | 1 | Apr 29, 2025 |
| Epilepsy, familial focal, with variable foci 1 | 1 | Feb 11, 2025 |
| Epilepsy, familial focal, with variable foci 3 | 1 | Mar 4, 2025 |
| Episodic ataxia type 2 | 1 | Sep 12, 2022 |
| Episodic pain syndrome, familial, 2 | 1 | Jun 10, 2024 |
| Exostoses, multiple, type 1 | 4 | Feb 21, 2025 |
| Exostoses, multiple, type 2 | 1 | Jan 30, 2025 |
| Fabry disease | 2 | Jul 9, 2024 |
| Familial Mediterranean fever | 1 | Feb 13, 2023 |
| Familial Mediterranean fever, autosomal dominant | 3 | Jun 9, 2022 |
| Familial adenomatous polyposis 1 | 1 | Sep 24, 2024 |
| Familial adenomatous polyposis 2 | 1 | Aug 9, 2024 |
| Familial adenomatous polyposis 4 | 2 | Aug 15, 2024 |
| Familial cancer of breast | 19 | Mar 10, 2025 |
| Familial cold autoinflammatory syndrome 2 | 3 | Apr 12, 2024 |
| Familial infantile myasthenia | 1 | Jan 23, 2025 |
| Familial pulmonary capillary hemangiomatosis | 1 | Nov 30, 2023 |
| Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome | 2 | Oct 10, 2024 |
| Freeman-Sheldon syndrome | 1 | Dec 6, 2023 |
| Generalized epilepsy with febrile seizures plus, type 2 | 4 | May 5, 2025 |
| Global developmental delay with speech and behavioral abnormalities | 1 | Sep 2, 2024 |
| Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | 1 | Jul 12, 2023 |
| Glutaric aciduria, type 1 | 1 | Sep 5, 2024 |
| Glycogen storage disease, type II | 2 | Mar 11, 2025 |
| Glycogen storage disease, type V | 2 | Jan 23, 2025 |
| Granulomatous disease, chronic, X-linked | 1 | Jul 19, 2024 |
| Hajdu-Cheney syndrome | 1 | Jan 17, 2025 |
| Hao-Fountain syndrome | 1 | May 15, 2023 |
| Harel-Yoon syndrome | 1 | Aug 25, 2022 |
| Hepatic methionine adenosyltransferase deficiency | 1 | Jul 30, 2024 |
| 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 | 2 | Mar 13, 2024 |
| 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 | 1 | Jan 3, 2025 |
| Hereditary spastic paraplegia 48 | 1 | Mar 21, 2025 |
| Hereditary spastic paraplegia 7 | 2 | Mar 31, 2025 |
| Hereditary spastic paraplegia 8 | 1 | Apr 8, 2025 |
| Hernia, anterior diaphragmatic | 1 | Sep 23, 2024 |
| Heterotopia, periventricular, X-linked dominant | 1 | Jan 30, 2025 |
| Hogue-Janssens syndrome 1 | 1 | May 22, 2023 |
| Holt-Oram syndrome | 1 | Jan 24, 2025 |
| Hyper-IgM syndrome type 2 | 1 | May 26, 2025 |
| Hypercholesterolemia, familial, 1 | 1 | Jun 12, 2024 |
| Hyperinsulinemic hypoglycemia, familial, 1 | 1 | Jun 20, 2025 |
| Hyperlipidemia, familial combined, LPL related | 1 | Aug 21, 2024 |
| Hyperphosphatasia with intellectual disability syndrome 1 | 1 | Aug 26, 2024 |
| Hypertriglyceridemia 2 | 1 | Aug 21, 2024 |
| Hypertrophic cardiomyopathy 1 | 2 | Apr 30, 2025 |
| Hypertrophic cardiomyopathy 2 | 1 | Apr 3, 2025 |
| Hypertrophic cardiomyopathy 26 | 1 | Nov 14, 2024 |
| Hypertrophic cardiomyopathy 4 | 1 | May 15, 2025 |
| Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 | 1 | Jun 25, 2024 |
| Hypogonadotropic hypogonadism 6 with or without anosmia | 2 | Jun 10, 2024 |
| Hypokalemic periodic paralysis, type 1 | 2 | Feb 12, 2025 |
| Hypomyelinating leukodystrophy 9 | 1 | Jan 9, 2024 |
| Hypomyelination with brain stem and spinal cord involvement and leg spasticity | 1 | Aug 25, 2022 |
| Hypoparathyroidism, deafness, renal disease syndrome | 1 | Jul 18, 2024 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 1 | Jun 16, 2023 |
| Immunodeficiency 39 | 1 | Aug 24, 2023 |
| Immunodeficiency, common variable, 2 | 2 | May 22, 2025 |
| Inflammatory bowel disease 28 | 1 | Feb 13, 2023 |
| Intellectual developmental disorder 61 | 2 | Nov 15, 2024 |
| Intellectual developmental disorder with autism and macrocephaly | 2 | Sep 6, 2024 |
| Intellectual developmental disorder with cardiac defects and dysmorphic facies | 2 | Oct 28, 2024 |
| Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 1 | Jun 7, 2024 |
| Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | 1 | Jan 3, 2025 |
| 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 syndromic, Turner type | 1 | May 15, 2023 |
| Intellectual disability, X-linked, syndromic, Houge type | 1 | Mar 12, 2025 |
| Intellectual disability, autosomal dominant 24 | 1 | Mar 26, 2025 |
| Intellectual disability, autosomal dominant 45 | 2 | Apr 19, 2023 |
| Intellectual disability, autosomal dominant 5 | 1 | May 26, 2025 |
| Intellectual disability, autosomal recessive 1 | 1 | May 3, 2023 |
| Intellectual disability, autosomal recessive 13 | 1 | Jan 16, 2025 |
| Intellectual disability, autosomal recessive 65 | 2 | Oct 25, 2024 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 1 | Feb 3, 2025 |
| Intellectual disability-hypotonia-spasticity-sleep disorder syndrome | 5 | May 16, 2025 |
| Intellectual disability-strabismus syndrome | 1 | Sep 29, 2022 |
| Interstitial lung disease due to ABCA3 deficiency | 2 | Mar 21, 2024 |
| Intestinal hypomagnesemia 1 | 1 | Aug 29, 2024 |
| Isovaleryl-CoA dehydrogenase deficiency | 1 | May 5, 2023 |
| Joubert syndrome 37 | 1 | Sep 4, 2024 |
| KBG syndrome | 5 | Mar 3, 2025 |
| Keratosis follicularis | 1 | Jul 30, 2024 |
| Kleefstra syndrome 2 | 2 | Mar 24, 2025 |
| Koolen-de Vries syndrome | 2 | Apr 12, 2023 |
| Lamb-Shaffer syndrome | 1 | Jan 17, 2025 |
| Left ventricular noncompaction 10 | 1 | May 26, 2025 |
| 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 type 1 due to doublecortin gene mutation | 1 | Sep 4, 2024 |
| Long QT syndrome 1 | 1 | Mar 21, 2025 |
| Long QT syndrome 2 | 1 | Apr 29, 2025 |
| Long QT syndrome 3 | 1 | Apr 11, 2025 |
| Lopes-Maciel-Rodan syndrome | 1 | Jun 11, 2024 |
| Lynch syndrome 1 | 4 | Aug 7, 2024 |
| 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 |
| Macrocephaly-autism syndrome | 1 | Jan 9, 2025 |
| Majeed syndrome | 2 | Apr 9, 2025 |
| Malignant hyperthermia, susceptibility to, 1 | 2 | Feb 25, 2025 |
| Marfan syndrome | 2 | Jan 16, 2025 |
| Maturity-onset diabetes of the young type 3 | 1 | Aug 30, 2024 |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2 | Jan 22, 2025 |
| Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | 1 | Jun 6, 2025 |
| Menke-Hennekam syndrome 1 | 1 | Feb 14, 2023 |
| Methylmalonic aciduria, cblA type | 2 | Oct 15, 2024 |
| Microcephalic primordial dwarfism, Alazami type | 1 | Jun 15, 2023 |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 1 | Jul 15, 2024 |
| Microcephaly, developmental delay, and brittle hair syndrome | 1 | Jul 22, 2024 |
| Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 2 | Feb 14, 2025 |
| 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 |
| Mullegama-Klein-Martinez syndrome | 1 | Oct 8, 2024 |
| Multiple acyl-CoA dehydrogenase deficiency | 2 | Jan 22, 2025 |
| Multiple endocrine neoplasia, type 1 | 1 | Apr 26, 2024 |
| Neurodegeneration with brain iron accumulation 5 | 1 | May 6, 2025 |
| 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 or without early-onset generalized epilepsy | 1 | Feb 28, 2024 |
| Neurodevelopmental disorder with speech impairment and with or without seizures | 1 | May 19, 2025 |
| Neurofibromatosis, type 1 | 8 | Jun 30, 2025 |
| Neuronal ceroid lipofuscinosis 1 | 2 | Feb 19, 2025 |
| Neuronopathy, distal hereditary motor, autosomal recessive 5 | 1 | Mar 24, 2023 |
| Neutrophil immunodeficiency syndrome | 1 | Nov 20, 2024 |
| Noonan syndrome 4 | 1 | Feb 26, 2025 |
| O'Donnell-Luria-Rodan syndrome | 1 | Aug 15, 2022 |
| Odonto-onycho-dermal dysplasia | 1 | Jun 20, 2024 |
| Okur-Chung neurodevelopmental syndrome | 1 | May 21, 2025 |
| Oroticaciduria | 1 | Jan 16, 2024 |
| Osteogenesis imperfecta type 7 | 1 | Jan 13, 2025 |
| Osteogenesis imperfecta type I | 2 | Jan 13, 2025 |
| Otospondylomegaepiphyseal dysplasia, autosomal recessive | 1 | Oct 23, 2024 |
| PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 2 | Feb 26, 2025 |
| Pancreatic agenesis 2 | 1 | Feb 12, 2023 |
| Pancreatic cancer, susceptibility to, 2 | 2 | Jun 10, 2024 |
| Pancreatic cancer, susceptibility to, 4 | 1 | Oct 11, 2024 |
| Papillary renal cell carcinoma type 1 | 1 | Aug 27, 2024 |
| Paragangliomas 1 | 1 | Sep 26, 2024 |
| Paragangliomas 5 | 1 | Apr 3, 2025 |
| Parenti-mignot neurodevelopmental syndrome | 1 | Feb 2, 2024 |
| 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 |
| Peutz-Jeghers syndrome | 1 | Jul 15, 2024 |
| Piebaldism | 1 | Nov 9, 2023 |
| Polycystic kidney disease 2 | 5 | Jan 20, 2025 |
| Polycystic kidney disease, adult type | 8 | Oct 25, 2024 |
| Primary ciliary dyskinesia 11 | 1 | Aug 25, 2022 |
| Primary ciliary dyskinesia 14 | 1 | Aug 25, 2022 |
| Primary ciliary dyskinesia 15 | 1 | Apr 17, 2025 |
| Primary ciliary dyskinesia 20 | 1 | Jan 22, 2024 |
| Primary ciliary dyskinesia 21 | 1 | Jun 8, 2023 |
| Primary ciliary dyskinesia 22 | 3 | Nov 5, 2024 |
| Primary ciliary dyskinesia 24 | 2 | Apr 23, 2025 |
| Primary ciliary dyskinesia 25 | 1 | Aug 15, 2023 |
| Primary ciliary dyskinesia 28 | 1 | Aug 30, 2024 |
| Primary ciliary dyskinesia 3 | 6 | Mar 7, 2025 |
| Primary ciliary dyskinesia 32 | 1 | Jul 18, 2024 |
| Primary ciliary dyskinesia 35 | 2 | Apr 28, 2025 |
| Primary ciliary dyskinesia 5 | 1 | Dec 12, 2024 |
| Primary ciliary dyskinesia 7 | 4 | Dec 12, 2024 |
| Primary ciliary dyskinesia 9 | 1 | Jan 30, 2024 |
| Progressive sclerosing poliodystrophy | 2 | May 6, 2025 |
| Proline dehydrogenase deficiency | 1 | Jan 20, 2025 |
| Protoporphyria, erythropoietic, 1 | 3 | Jul 30, 2024 |
| Pseudohypoaldosteronism, type IB1, autosomal recessive | 1 | May 12, 2025 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | 2 | Apr 2, 2025 |
| Pulmonary hypertension, primary, 1 | 1 | Jun 11, 2024 |
| Pyridoxine-dependent epilepsy | 2 | Mar 24, 2025 |
| Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | 1 | Sep 12, 2024 |
| Renal carnitine transport defect | 1 | Jul 18, 2024 |
| Renal tubular dysgenesis of genetic origin | 1 | Sep 27, 2024 |
| Rett syndrome | 2 | Jan 6, 2025 |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 1 | Mar 4, 2025 |
| SHORT syndrome | 1 | Sep 14, 2023 |
| STING-associated vasculopathy with onset in infancy | 1 | Aug 31, 2022 |
| Severe X-linked myotubular myopathy | 1 | Apr 28, 2023 |
| Severe early-childhood-onset retinal dystrophy | 1 | Jul 30, 2024 |
| Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | 1 | Jan 3, 2025 |
| Severe intellectual disability-progressive spastic diplegia syndrome | 1 | Feb 12, 2025 |
| Severe myoclonic epilepsy in infancy | 2 | Mar 18, 2025 |
| Sialidosis type 2 | 1 | Jul 8, 2024 |
| Snijders Blok-Campeau syndrome | 1 | Jan 28, 2025 |
| Sotos syndrome | 1 | Jan 6, 2025 |
| Spinocerebellar ataxia 48 | 1 | Jun 11, 2024 |
| 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 |
| Stuve-Wiedemann syndrome 2 | 4 | Aug 9, 2023 |
| Sucrase-isomaltase deficiency | 1 | Mar 24, 2023 |
| Surfactant metabolism dysfunction, pulmonary, 1 | 1 | Oct 25, 2024 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 1 | Apr 2, 2025 |
| TCF12-related craniosynostosis | 1 | Apr 7, 2025 |
| Telangiectasia, hereditary hemorrhagic, type 2 | 1 | Jan 20, 2023 |
| Tremor, hereditary essential, 5 | 1 | Jul 30, 2024 |
| Tuberous sclerosis 1 | 1 | Jul 5, 2024 |
| Tuberous sclerosis 2 | 1 | Jul 2, 2024 |
| Tyrosinase-positive oculocutaneous albinism | 1 | Jan 13, 2025 |
| Usmani-Riazuddin syndrome, autosomal recessive | 1 | Jul 24, 2023 |
| Variegate porphyria | 2 | Apr 3, 2025 |
| Very long chain acyl-CoA dehydrogenase deficiency | 2 | Jan 21, 2025 |
| Waardenburg syndrome type 1 | 2 | Jan 20, 2025 |
| Waardenburg syndrome type 4A | 1 | May 28, 2024 |
| Wilson disease | 2 | Mar 25, 2025 |
| X-linked Alport syndrome | 3 | Jul 30, 2024 |
| X-linked agammaglobulinemia | 1 | Jun 23, 2025 |
| X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | 1 | Jun 26, 2023 |
