| 2-aminoadipic 2-oxoadipic aciduria | 1 | Apr 18, 2018 |
| 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 1 | Jun 13, 2018 |
| 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | 2 | Oct 17, 2018 |
| 3-hydroxyisobutyryl-CoA hydrolase deficiency | 1 | Oct 17, 2018 |
| 3-methylcrotonyl-CoA carboxylase 1 deficiency | 1 | Oct 17, 2018 |
| 3-methylcrotonyl-CoA carboxylase 2 deficiency | 2 | Oct 17, 2018 |
| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 1 | Apr 18, 2018 |
| 3-methylglutaconic aciduria, type VIIB | 1 | Oct 17, 2018 |
| 3M syndrome 1 | 1 | Jul 24, 2024 |
| ALDH18A1-related de Barsy syndrome | 1 | Jun 13, 2018 |
| ALG8 congenital disorder of glycosylation | 1 | Jun 13, 2018 |
| Abnormality of the dentition | 2 | Jun 9, 2022 |
| Achondrogenesis, type IA | 4 | Aug 27, 2019 |
| Acrocephalosyndactyly type I | 1 | Oct 17, 2018 |
| Acromelic frontonasal dysostosis | 1 | Jun 13, 2018 |
| Actin accumulation myopathy | 2 | Jun 11, 2020 |
| Acyl-CoA dehydrogenase 9 deficiency | 1 | Mar 11, 2025 |
| Adrenoleukodystrophy | 1 | Oct 12, 2023 |
| Adult hypophosphatasia | 1 | Jun 13, 2018 |
| Agammaglobulinemia 10, autosomal dominant | 4 | Jun 29, 2022 |
| Aicardi-Goutieres syndrome 2 | 1 | Jun 13, 2018 |
| Aicardi-Goutieres syndrome 3 | 1 | Jun 13, 2018 |
| Alagille syndrome due to a JAG1 point mutation | 2 | Oct 17, 2018 |
| Allan-Herndon-Dudley syndrome | 1 | Jun 13, 2018 |
| Alport syndrome 3b, autosomal recessive | 2 | May 13, 2024 |
| Alternating hemiplegia of childhood 2 | 1 | Jun 13, 2018 |
| Alzheimer disease 4 | 1 | Jun 13, 2018 |
| Amyotrophic lateral sclerosis type 10 | 1 | Jun 13, 2018 |
| Aortic aneurysm, familial thoracic 7 | 1 | Jun 13, 2018 |
| Argininosuccinate lyase deficiency | 1 | Jun 13, 2018 |
| Arrhythmogenic right ventricular dysplasia 8 | 1 | Jun 13, 2018 |
| Arrhythmogenic right ventricular dysplasia 9 | 1 | Jun 13, 2018 |
| Arthrogryposis, distal, type 2B2 | 2 | Aug 27, 2019 |
| Arthrogryposis, distal, type 2B3 | 5 | Sep 24, 2019 |
| Ataxia-telangiectasia syndrome | 2 | Jun 13, 2018 |
| Autoinflammation with arthritis and dyskeratosis | 1 | Apr 18, 2018 |
| Autosomal dominant nonsyndromic hearing loss 6 | 1 | Jun 13, 2018 |
| Autosomal dominant optic atrophy classic form | 1 | Jun 13, 2018 |
| Autosomal recessive bestrophinopathy | 1 | Jun 13, 2018 |
| Autosomal recessive congenital ichthyosis 2 | 1 | Jun 13, 2018 |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 2 | Jun 13, 2018 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 1 | Jun 13, 2018 |
| Autosomal recessive limb-girdle muscular dystrophy type 2C | 1 | Jun 13, 2018 |
| Autosomal recessive limb-girdle muscular dystrophy type 2E | 2 | Jun 13, 2018 |
| Autosomal recessive limb-girdle muscular dystrophy type 2L | 3 | Dec 6, 2023 |
| Autosomal recessive nonsyndromic hearing loss 26 | 1 | Oct 17, 2018 |
| Autosomal recessive nonsyndromic hearing loss 32 | 7 | Mar 27, 2019 |
| Autosomal recessive nonsyndromic hearing loss 4 | 1 | May 15, 2024 |
| Autosomal recessive nonsyndromic hearing loss 48 | 1 | Oct 17, 2018 |
| Autosomal recessive polycystic kidney disease | 8 | Jun 13, 2018 |
| Bardet-Biedl syndrome 12 | 1 | Jun 13, 2018 |
| Bardet-Biedl syndrome 6 | 2 | Jun 13, 2018 |
| Basal ganglia calcification, idiopathic, 7, autosomal recessive | 24 | Aug 27, 2019 |
| Beck-Fahrner syndrome | 1 | Jul 27, 2020 |
| Benign concentric annular macular dystrophy | 3 | Apr 19, 2022 |
| Bernard Soulier syndrome | 1 | Jun 13, 2018 |
| Boudin-Mortier syndrome | 2 | Apr 19, 2022 |
| Brugada syndrome 1 | 1 | Jun 13, 2018 |
| Brunet-Wagner neurodevelopmental syndrome | 1 | Jun 16, 2022 |
| CEBALID syndrome | 7 | Sep 15, 2020 |
| CHARGE syndrome | 2 | Jun 13, 2018 |
| Capillary malformation-arteriovenous malformation 1 | 1 | Jun 13, 2018 |
| Capillary malformation-arteriovenous malformation 2 | 28 | Jun 21, 2019 |
| Cardiomyopathy, dilated, 2E | 1 | Mar 30, 2022 |
| Cataract 1 multiple types | 2 | May 20, 2022 |
| Cataract 30 | 1 | Apr 18, 2018 |
| Cataract 48 | 1 | Sep 24, 2019 |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 1 | Jun 13, 2018 |
| Catecholaminergic polymorphic ventricular tachycardia 4 | 1 | Jul 27, 2020 |
| Cerebellar ataxia, brain abnormalities, and cardiac conduction defects | 3 | Apr 19, 2022 |
| Ceroid lipofuscinosis, neuronal, 6A | 1 | Jun 13, 2018 |
| Charcot-Marie-Tooth disease axonal type 2O | 1 | Oct 17, 2018 |
| Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; | 3 | Jun 13, 2018 |
| Charcot-Marie-Tooth disease, axonal, type 2EE | 1 | Sep 24, 2019 |
| Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | 1 | Apr 18, 2018 |
| Chopra-Amiel-Gordon syndrome | 7 | Mar 7, 2022 |
| Choroidal dystrophy, central areolar, 1 | 1 | Oct 17, 2018 |
| Ciliary dyskinesia, primary, 53 | 2 | Mar 15, 2024 |
| Citrullinemia type I | 1 | Jun 13, 2018 |
| Classic homocystinuria | 3 | Jun 13, 2018 |
| Cleidocranial dysostosis | 1 | Jun 13, 2018 |
| Coffin-Siris syndrome 6 | 2 | Oct 17, 2018 |
| Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | 5 | Oct 17, 2018 |
| Combined immunodeficiency due to GINS1 deficiency | 2 | Oct 17, 2018 |
| Combined oxidative phosphorylation defect type 24 | 4 | Jun 9, 2022 |
| Combined oxidative phosphorylation deficiency 32 | 2 | Apr 18, 2018 |
| Combined oxidative phosphorylation deficiency 34 | 1 | Apr 18, 2018 |
| Combined oxidative phosphorylation deficiency 35 | 6 | Oct 17, 2018 |
| Combined oxidative phosphorylation deficiency 36 | 3 | Oct 17, 2018 |
| Complex cortical dysplasia with other brain malformations 2 | 1 | Jun 13, 2018 |
| Cone dystrophy 3 | 16 | Jun 11, 2020 |
| Cone-rod dystrophy and hearing loss 2 | 5 | Feb 19, 2020 |
| Congenital chylothorax | 3 | Mar 22, 2024 |
| Congenital disorder of glycosylation, type IIw | 1 | Apr 20, 2022 |
| Congenital disorder of glycosylation, type Iw, autosomal dominant | 7 | Jun 29, 2022 |
| Congenital disorder of glycosylation, type iit | 4 | Jan 8, 2021 |
| Congenital dyserythropoietic anemia type type 1B | 6 | Aug 12, 2019 |
| Congenital myasthenic syndrome 8 | 1 | Oct 17, 2018 |
| Congenital myopathy with reduced type 2 muscle fibers | 1 | Dec 4, 2024 |
| Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | 3 | Sep 24, 2019 |
| Cornelia de Lange syndrome 6 | 1 | Mar 15, 2024 |
| Crouzon syndrome | 1 | Apr 18, 2018 |
| Cystic fibrosis | 2 | Apr 30, 2024 |
| Deafness, congenital heart defects, and posterior embryotoxon | 1 | Oct 17, 2018 |
| Decreased circulating immunoglobulin concentration | 1 | Apr 18, 2018 |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 1 | Jun 13, 2018 |
| Deficiency of acetyl-CoA acetyltransferase | 1 | Oct 17, 2018 |
| Desmin-related myofibrillar myopathy | 1 | Apr 18, 2018 |
| Developmental and epileptic encephalopathy, 13 | 1 | Oct 29, 2024 |
| Developmental and epileptic encephalopathy, 41 | 1 | Apr 18, 2018 |
| Developmental and epileptic encephalopathy, 49 | 1 | Apr 18, 2018 |
| Developmental and epileptic encephalopathy, 56 | 5 | Apr 18, 2018 |
| Developmental and epileptic encephalopathy, 63 | 3 | Oct 17, 2018 |
| Developmental and epileptic encephalopathy, 64 | 6 | Oct 17, 2018 |
| Developmental and epileptic encephalopathy, 65 | 3 | Oct 17, 2018 |
| Developmental and epileptic encephalopathy, 67 | 1 | Mar 27, 2019 |
| Developmental and epileptic encephalopathy, 68 | 1 | Mar 27, 2019 |
| Developmental and epileptic encephalopathy, 7 | 1 | Jun 13, 2018 |
| Developmental and epileptic encephalopathy, 75 | 6 | Oct 17, 2019 |
| Developmental and epileptic encephalopathy, 76 | 11 | Aug 12, 2019 |
| Developmental delay, language impairment, and ocular abnormalities | 1 | Mar 15, 2024 |
| Dilated cardiomyopathy 1A | 1 | Jun 13, 2018 |
| Dilated cardiomyopathy 1S | 1 | Jun 13, 2018 |
| Dilated cardiomyopathy 3B | 1 | Jun 13, 2018 |
| Dyschromatosis universalis hereditaria 1 | 8 | Dec 18, 2019 |
| Dystonia 28, childhood-onset | 11 | Jul 27, 2018 |
| Dystonia 33 | 4 | Jun 16, 2022 |
| Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | 1 | Oct 17, 2018 |
| Ehlers-Danlos syndrome, classic type | 1 | Jun 13, 2018 |
| Ehlers-Danlos syndrome, classic-like, 2 | 1 | Oct 17, 2018 |
| Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | 3 | Apr 18, 2018 |
| Episodic ataxia type 2 | 1 | Oct 17, 2018 |
| Estrogen resistance syndrome | 1 | Jul 6, 2017 |
| Extra oral halitosis | 3 | Apr 18, 2018 |
| Exudative vitreoretinopathy 4 | 1 | Jun 13, 2018 |
| Fabry disease | 1 | Jun 13, 2018 |
| Familial Mediterranean fever | 1 | Jun 13, 2018 |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 1 | Jun 13, 2018 |
| Familial adenomatous polyposis 1 | 2 | Oct 17, 2018 |
| Farber lipogranulomatosis | 1 | Apr 18, 2018 |
| Finnish congenital nephrotic syndrome | 1 | Jun 13, 2018 |
| Freeman-Sheldon syndrome | 2 | Sep 24, 2019 |
| Galactosylceramide beta-galactosidase deficiency | 1 | Jun 13, 2018 |
| Galloway-Mowat syndrome 7 | 1 | Jul 9, 2019 |
| Geleophysic dysplasia 3 | 1 | Oct 17, 2018 |
| Glucocorticoid deficiency 5 | 1 | Oct 17, 2018 |
| Glucocorticoid deficiency with achalasia | 1 | Jun 13, 2018 |
| Glycogen storage disease, type II | 1 | Jun 13, 2018 |
| Glycogen storage disease, type V | 1 | Jun 13, 2018 |
| Glycogen storage disease, type VII | 1 | Jun 13, 2018 |
| Glycosylphosphatidylinositol biosynthesis defect 15 | 6 | Oct 17, 2018 |
| Glycosylphosphatidylinositol biosynthesis defect 16 | 3 | Oct 17, 2018 |
| Glycosylphosphatidylinositol biosynthesis defect 18 | 3 | Aug 27, 2019 |
| Greig cephalopolysyndactyly syndrome | 1 | Jun 13, 2018 |
| Hajdu-Cheney syndrome | 1 | Apr 18, 2018 |
| Hearing loss, autosomal dominant 73 | 1 | Apr 18, 2018 |
| Hearing loss, autosomal dominant 81 | 1 | May 15, 2024 |
| Hearing loss, autosomal recessive 109 | 1 | Oct 17, 2018 |
| Hearing loss, autosomal recessive 114 | 1 | Aug 12, 2019 |
| Hearing loss, autosomal recessive 57 | 5 | Oct 17, 2018 |
| Hearing loss, autosomal recessive 94 | 1 | Sep 13, 2024 |
| Hemochromatosis type 1 | 1 | Jun 13, 2018 |
| Hereditary acrodermatitis enteropathica | 1 | Jun 13, 2018 |
| Hereditary fructosuria | 1 | Jun 13, 2018 |
| Hereditary insensitivity to pain with anhidrosis | 1 | Jun 13, 2018 |
| Hereditary spastic paraplegia 17 | 1 | Jun 13, 2018 |
| Hereditary spastic paraplegia 30 | 21 | Jun 17, 2020 |
| Hereditary spastic paraplegia 3A | 1 | Jun 13, 2018 |
| Hereditary spastic paraplegia 4 | 2 | Dec 4, 2024 |
| Hereditary spastic paraplegia 46 | 7 | Mar 27, 2019 |
| Hereditary spastic paraplegia 7 | 1 | Jun 13, 2018 |
| Hernia, anterior diaphragmatic | 7 | Mar 15, 2024 |
| Heterotopia, periventricular, X-linked dominant | 1 | Jun 13, 2018 |
| Houge-Janssens syndrome 3 | 12 | Aug 12, 2019 |
| Hoxha-Aliu syndrome | 2 | Mar 15, 2024 |
| Hydatidiform mole, recurrent, 3 | 1 | Oct 17, 2019 |
| Hydatidiform mole, recurrent, 4 | 1 | Oct 17, 2019 |
| Hydrolethalus syndrome 2 | 1 | Jun 13, 2018 |
| Hyper-IgE recurrent infection syndrome 3, autosomal recessive | 4 | Aug 12, 2019 |
| Hypercholesterolemia, familial, 1 | 1 | Jun 13, 2018 |
| Hyperekplexia 4 | 2 | Oct 17, 2018 |
| Hyperparathyroidism, transient neonatal | 6 | Aug 12, 2019 |
| Hypertrophic cardiomyopathy 4 | 2 | Jun 13, 2018 |
| Hypertrophic cardiomyopathy 6 | 1 | Jun 13, 2018 |
| Hypogonadotropic hypogonadism 2 with or without anosmia | 1 | Jun 13, 2018 |
| Hypogonadotropic hypogonadism 5 with or without anosmia | 1 | Jun 13, 2018 |
| Hypokalemic periodic paralysis, type 1 | 1 | Jun 13, 2018 |
| Hypomagnesemia, seizures, and intellectual disability 1 | 1 | Apr 18, 2018 |
| Hypothyroidism, congenital, nongoitrous, 7 | 3 | Feb 19, 2020 |
| Hypothyroidism, congenital, nongoitrous, 8 | 6 | Feb 19, 2020 |
| Hypotrichosis 5 | 1 | Sep 15, 2020 |
| Hypotrichosis 8 | 9 | Jun 1, 2023 |
| Idiopathic cardiomyopathy | 1 | Mar 18, 2024 |
| Immunodeficiency 14 | 1 | Jun 13, 2018 |
| Immunodeficiency 15a | 1 | Jan 21, 2019 |
| Immunodeficiency 72 with autoinflammation | 4 | Apr 13, 2021 |
| Inborn mitochondrial myopathy | 2 | Aug 12, 2019 |
| Increased bone mineral density | 1 | Mar 18, 2024 |
| Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | 5 | Jun 21, 2019 |
| Inflammatory bowel disease, immunodeficiency, and encephalopathy | 3 | Mar 27, 2019 |
| Intellectual developmental disorder 60 with seizures | 1 | Dec 18, 2019 |
| Intellectual developmental disorder with macrocephaly, seizures, and speech delay | 2 | Aug 27, 2019 |
| Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism | 36 | Mar 9, 2023 |
| Intellectual developmental disorder with seizures and language delay | 6 | Apr 13, 2021 |
| Intellectual developmental disorder with severe speech and ambulation defects | 2 | Aug 12, 2019 |
| Intellectual developmental disorder, X-linked 108 | 1 | Aug 12, 2019 |
| Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | 6 | Sep 15, 2020 |
| Intellectual developmental disorder, autosomal recessive 67 | 1 | Dec 18, 2019 |
| Intellectual disability, autosomal dominant 1 | 3 | Oct 17, 2018 |
| Intellectual disability, autosomal dominant 15 | 1 | Sep 15, 2025 |
| Intellectual disability, autosomal dominant 5 | 1 | Jun 13, 2018 |
| Intellectual disability, autosomal dominant 51 | 4 | Jan 21, 2019 |
| Intellectual disability, autosomal dominant 57 | 19 | Oct 17, 2018 |
| Intellectual disability, autosomal dominant 9 | 16 | Jun 17, 2020 |
| Intellectual disability, autosomal recessive 65 | 2 | May 17, 2019 |
| Intellectual disability, autosomal recessive 66 | 2 | Feb 19, 2020 |
| Islet cell adenomatosis | 1 | Oct 17, 2018 |
| Joubert syndrome 3 | 2 | Jun 13, 2018 |
| Joubert syndrome 39 | 1 | Apr 20, 2022 |
| Joubert syndrome 40 | 3 | Apr 20, 2022 |
| Joubert syndrome 5 | 1 | Jun 13, 2018 |
| Joubert syndrome 6 | 1 | Jun 13, 2018 |
| Juvenile retinoschisis | 2 | Jun 13, 2018 |
| Keipert syndrome | 2 | Oct 17, 2019 |
| Keratitis fugax hereditaria | 1 | Oct 17, 2018 |
| Kleefstra syndrome 2 | 3 | Apr 18, 2018 |
| Koolen-de Vries syndrome | 3 | Jun 21, 2019 |
| Lactic aciduria due to D-lactic acid | 2 | Aug 27, 2019 |
| Laron-type isolated somatotropin defect | 1 | Jun 13, 2018 |
| Late-onset spinocerebellar ataxia | 1 | Jun 19, 2025 |
| Learning Disabilities, Adolescent | 1 | Mar 15, 2024 |
| Leber congenital amaurosis 2 | 9 | Feb 19, 2020 |
| Leber congenital amaurosis with early-onset deafness | 2 | Oct 17, 2018 |
| Leukodystrophy, hypomyelinating, 16 | 1 | Oct 17, 2018 |
| Leukodystrophy, hypomyelinating, 18 | 10 | Oct 17, 2019 |
| Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome | 8 | Jan 8, 2021 |
| Long QT syndrome 1 | 2 | Oct 17, 2018 |
| Long QT syndrome 14 | 5 | Jul 27, 2020 |
| Long QT syndrome 2 | 2 | Jun 13, 2018 |
| Long QT syndrome 3 | 1 | Oct 17, 2018 |
| Long QT syndrome 5 | 1 | Jun 13, 2018 |
| Macrocephaly, acquired, with impaired intellectual development | 4 | Oct 17, 2019 |
| Malignant hyperthermia, susceptibility to, 1 | 1 | Jun 13, 2018 |
| Maple syrup urine disease | 2 | Jun 13, 2018 |
| Marbach-Schaaf neurodevelopmental syndrome | 1 | Jun 9, 2022 |
| Marfan syndrome | 3 | Jun 13, 2018 |
| Meier-Gorlin syndrome 2 | 1 | Jun 13, 2018 |
| Meier-Gorlin syndrome 7 | 9 | Apr 11, 2024 |
| Mental disorder | 2 | Mar 15, 2024 |
| Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression | 1 | Sep 24, 2019 |
| Metachromatic leukodystrophy | 1 | Oct 17, 2018 |
| Methemoglobinemia type 4 | 2 | Oct 17, 2018 |
| Microcephalic osteodysplastic dysplasia, Saul-Wilson type | 1 | Aug 12, 2019 |
| Microcephaly 24, primary, autosomal recessive | 1 | Jan 21, 2019 |
| Microcephaly 5, primary, autosomal recessive | 1 | Oct 17, 2018 |
| Microcephaly-capillary malformation syndrome | 1 | Jun 13, 2018 |
| Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 5 | Sep 15, 2020 |
| Mitochondrial DNA depletion syndrome 19 | 1 | Apr 8, 2021 |
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 19 | Sep 24, 2019 |
| Mitochondrial complex I deficiency, nuclear type 10 | 1 | Mar 27, 2019 |
| Mitochondrial complex I deficiency, nuclear type 15 | 1 | Mar 27, 2019 |
| Mitochondrial complex I deficiency, nuclear type 18 | 1 | Mar 27, 2019 |
| Mitochondrial complex I deficiency, nuclear type 8 | 3 | Mar 27, 2019 |
| Mitochondrial complex IV deficiency, nuclear type 12 | 1 | Jan 8, 2021 |
| Mitochondrial complex IV deficiency, nuclear type 18 | 2 | Jan 8, 2021 |
| Mitochondrial complex IV deficiency, nuclear type 19 | 1 | Jan 8, 2021 |
| Mucopolysaccharidosis type 6 | 4 | Jun 13, 2018 |
| Mucopolysaccharidosis, MPS-III-A | 1 | Jun 13, 2018 |
| Multiple synostoses syndrome 4 | 2 | Oct 17, 2018 |
| Mungan syndrome | 1 | Jan 21, 2019 |
| Muscular dystrophy | 1 | Apr 18, 2018 |
| Muscular dystrophy, limb-girdle, autosomal recessive 27 | 11 | Apr 20, 2022 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 | 1 | Jun 13, 2018 |
| Myofibromatosis, infantile, 1 | 1 | Jun 13, 2018 |
| Myopathy, centronuclear, 2 | 4 | Mar 27, 2019 |
| Myopathy, congenital, with structured cores and z-line abnormalities | 1 | Jul 27, 2020 |
| Myopathy, distal, 6, adult-onset, autosomal dominant | 2 | Jul 27, 2020 |
| Myopathy, epilepsy, and progressive cerebral atrophy | 3 | Apr 13, 2021 |
| Nemaline myopathy 7 | 1 | Apr 18, 2018 |
| Nephronophthisis 12 | 1 | Oct 17, 2018 |
| Nephrotic syndrome, type 11 | 1 | Jan 21, 2019 |
| Nephrotic syndrome, type 17 | 3 | Jan 21, 2019 |
| Nephrotic syndrome, type 18 | 3 | Jan 21, 2019 |
| Nephrotic syndrome, type 19 | 2 | Jan 21, 2019 |
| Nephrotic syndrome, type 20 | 2 | Sep 24, 2019 |
| Neurodegeneration with brain iron accumulation 4 | 1 | Jun 13, 2018 |
| Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | 1 | Jan 21, 2019 |
| Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline | 1 | Mar 15, 2024 |
| Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia | 2 | Aug 27, 2019 |
| Neurodevelopmental disorder | 2 | Mar 22, 2024 |
| Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | 2 | Oct 17, 2018 |
| Neurodevelopmental disorder with hypotonia and brain abnormalities | 8 | Mar 30, 2022 |
| Neurodevelopmental disorder with language impairment and behavioral abnormalities | 15 | Apr 8, 2021 |
| Neurodevelopmental disorder with microcephaly and dysmorphic facies | 2 | Sep 15, 2020 |
| Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities | 3 | May 13, 2024 |
| Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies | 6 | Feb 19, 2020 |
| Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | 9 | May 12, 2021 |
| Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities | 3 | May 12, 2021 |
| Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | 8 | Oct 17, 2019 |
| Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies | 4 | Sep 15, 2020 |
| Neurodevelopmental disorder with seizures and speech and walking impairment | 2 | Dec 18, 2019 |
| Neurodevelopmental, jaw, eye, and digital syndrome | 7 | Apr 13, 2021 |
| Neurofibromatosis, type 1 | 2 | Jun 13, 2018 |
| Neuronal ceroid lipofuscinosis 5 | 2 | Oct 17, 2018 |
| Neuronal ceroid lipofuscinosis 8 | 1 | Jun 13, 2018 |
| Neuronopathy, distal hereditary motor, type 9 | 1 | May 13, 2024 |
| Neuroocular syndrome | 8 | Apr 19, 2022 |
| Niemann-Pick disease, type C1 | 1 | Jun 13, 2018 |
| Noonan syndrome 7 | 1 | Jun 13, 2018 |
| Oculocerebrodental syndrome | 1 | Oct 17, 2019 |
| Oculocutaneous albinism type 4 | 2 | Mar 22, 2024 |
| Odontochondrodysplasia 1 | 5 | Aug 27, 2019 |
| Oocyte maturation defect 4 | 8 | Apr 18, 2018 |
| Oocyte maturation defect 8 | 2 | May 12, 2021 |
| Orofaciodigital syndrome I | 1 | Apr 18, 2018 |
| Orofaciodigital syndrome type 6 | 1 | May 14, 2024 |
| Ovarian dysgenesis 5 | 1 | Apr 18, 2018 |
| PMM2-congenital disorder of glycosylation | 3 | Jun 13, 2018 |
| PUM1-associated developmental disability-ataxia-seizure syndrome | 1 | Apr 29, 2024 |
| Peroxisome biogenesis disorder 10B | 1 | Apr 18, 2018 |
| Peroxisome biogenesis disorder 1A (Zellweger) | 2 | Jun 13, 2018 |
| Phytanic acid storage disease | 1 | Jun 13, 2018 |
| Pigmentary pallidal degeneration | 1 | Jun 13, 2018 |
| Polycystic kidney disease 4 | 1 | Dec 6, 2023 |
| Polycystic kidney disease 6 with or without polycystic liver disease | 3 | Oct 17, 2018 |
| Polycystic kidney disease, adult type | 1 | Jun 13, 2018 |
| Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 | 7 | Oct 17, 2019 |
| Polydactyly of a biphalangeal thumb | 1 | Oct 17, 2019 |
| Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | 4 | Aug 12, 2019 |
| Pontocerebellar hypoplasia, type 16 | 4 | Mar 30, 2022 |
| Primary ciliary dyskinesia 14 | 1 | Jun 13, 2018 |
| Primary ciliary dyskinesia 17 | 1 | Jun 13, 2018 |
| Primary hyperoxaluria, type I | 1 | Jun 13, 2018 |
| Progressive familial intrahepatic cholestasis type 3 | 1 | Jun 13, 2018 |
| Progressive pseudorheumatoid dysplasia | 3 | Mar 27, 2019 |
| Progressive sclerosing poliodystrophy | 1 | Jun 13, 2018 |
| Protoporphyria, erythropoietic, 2 | 1 | Oct 17, 2018 |
| Recessive dystrophic epidermolysis bullosa | 2 | Jun 13, 2018 |
| Renal cysts and diabetes syndrome | 1 | Jun 13, 2018 |
| Retinal degeneration | 2 | Feb 19, 2020 |
| Retinal dystrophy | 1 | Feb 19, 2020 |
| Retinitis pigmentosa 39 | 1 | Jun 13, 2018 |
| Retinitis pigmentosa 81 | 1 | Oct 17, 2018 |
| Retinitis pigmentosa 83 | 1 | Jan 21, 2019 |
| Retinitis pigmentosa 84 | 2 | Jan 21, 2019 |
| Rett syndrome | 2 | May 15, 2024 |
| Rippling muscle disease 2 | 1 | Jun 13, 2018 |
| Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | 1 | Jun 13, 2018 |
| Salla disease | 1 | Jun 13, 2018 |
| Schinzel-Giedion syndrome | 1 | Jun 13, 2018 |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 1 | Nov 27, 2023 |
| Severe combined immunodeficiency due to CARMIL2 deficiency | 4 | Mar 27, 2019 |
| Severe myoclonic epilepsy in infancy | 1 | Jun 13, 2018 |
| Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | 3 | Oct 17, 2018 |
| Short-rib thoracic dysplasia 18 with polydactyly | 1 | Oct 17, 2018 |
| Short-rib thoracic dysplasia 19 with or without polydactyly | 4 | Oct 17, 2018 |
| Short-rib thoracic dysplasia 20 with polydactyly | 3 | Oct 17, 2018 |
| Short-rib thoracic dysplasia 7 with or without polydactyly | 3 | Oct 17, 2018 |
| Shprintzen-Goldberg syndrome | 1 | Jun 13, 2018 |
| Shwachman-Diamond syndrome 1 | 6 | Jun 13, 2018 |
| Shwachman-Diamond syndrome 2 | 1 | Oct 17, 2018 |
| Sitosterolemia | 2 | Jun 13, 2018 |
| Sitosterolemia 2 | 1 | May 20, 2022 |
| Skeletal dysplasia, mild, with joint laxity and advanced bone age | 3 | Jan 8, 2021 |
| Snijders Blok-Campeau syndrome | 20 | Mar 27, 2019 |
| Spastic paraplegia 85, autosomal recessive | 1 | Jun 16, 2022 |
| Spermatogenic failure 27 | 1 | Oct 17, 2018 |
| Spermatogenic failure 39 | 3 | Feb 19, 2020 |
| Spermatogenic failure 56 | 4 | Mar 30, 2022 |
| Spermatogenic failure 58 | 1 | Apr 20, 2022 |
| Spermatogenic failure 65 | 10 | Jun 29, 2022 |
| Spermatogenic failure 78 | 1 | Mar 15, 2024 |
| Spinocerebellar ataxia 45 | 2 | Oct 17, 2018 |
| Spinocerebellar ataxia 46 | 1 | Oct 17, 2018 |
| Spinocerebellar ataxia 47 | 1 | Jun 19, 2025 |
| Spinocerebellar ataxia type 6 | 1 | Oct 17, 2018 |
| Spondyloepimetaphyseal dysplasia, Guo-Campeau type | 6 | Mar 15, 2024 |
| Spondyloepimetaphyseal dysplasia, di rocco type | 1 | Oct 17, 2018 |
| Spondylometaphyseal dysplasia - Sutcliffe type | 6 | Oct 17, 2018 |
| Spongy degeneration of central nervous system | 1 | Jun 13, 2018 |
| Tan-Almurshedi syndrome | 4 | Mar 15, 2024 |
| Telangiectasia, hereditary hemorrhagic, type 1 | 1 | Jun 13, 2018 |
| Tetralogy of Fallot | 1 | Oct 17, 2018 |
| Treacher Collins syndrome 3 | 1 | Jun 13, 2018 |
| Tuberous sclerosis 2 | 1 | Jun 13, 2018 |
| Tumoral calcinosis, hyperphosphatemic, familial, 1 | 1 | Oct 17, 2018 |
| Tumoral calcinosis, hyperphosphatemic, familial, 3 | 1 | Oct 17, 2018 |
| Turnpenny-fry syndrome | 2 | Aug 27, 2019 |
| Usher syndrome type 1 | 3 | Jun 13, 2018 |
| Usher syndrome type 2A | 2 | Jun 13, 2018 |
| VISS syndrome | 9 | Apr 1, 2022 |
| Vertebral, cardiac, renal, and limb defects syndrome 1 | 2 | Apr 18, 2018 |
| Very long chain acyl-CoA dehydrogenase deficiency | 1 | Jun 13, 2018 |
| Vici syndrome | 22 | Jan 21, 2019 |
| Visceral neuropathy, familial, 1, autosomal recessive | 2 | Mar 30, 2022 |
| Wilson disease | 8 | Apr 27, 2020 |
| X-linked congenital hemolytic anemia | 1 | Oct 17, 2018 |
| Xeroderma pigmentosum variant type | 1 | Jun 13, 2018 |
| not specified | 27 | Jun 13, 2018 |
