| 3-Methylglutaconic aciduria type 2 | 1 | Sep 20, 2019 |
| 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia | 1 | Oct 15, 2021 |
| 3M syndrome 1 | 2 | Jul 31, 2020 |
| 8q24.3 microdeletion syndrome | 1 | Oct 15, 2021 |
| ABCC8-related disorders | 1 | Oct 15, 2021 |
| ACOX1-related disorders | 1 | Oct 15, 2021 |
| ACTA1-related myopathies | 2 | Oct 15, 2021 |
| ACTN2-related disorders | 1 | Jul 31, 2020 |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 1 | Jul 31, 2020 |
| ALDH18A1-related de Barsy syndrome | 1 | Sep 20, 2019 |
| ALG12-congenital disorder of glycosylation | 1 | Jul 31, 2020 |
| ARFGEF1-RELATED DISORDER | 1 | Oct 14, 2021 |
| ATM-related disorders | 1 | Oct 15, 2021 |
| ATP1A3-Related Disorders | 1 | Jul 31, 2020 |
| ATP8B1-Related Disorders | 1 | Oct 15, 2021 |
| ATTRV122I amyloidosis | 1 | Sep 20, 2019 |
| Actin accumulation myopathy | 2 | Sep 20, 2019 |
| Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | 1 | Sep 20, 2019 |
| Aganglionic megacolon | 1 | Sep 20, 2019 |
| Aicardi-Goutieres syndrome 1 | 1 | Sep 20, 2019 |
| Alpha thalassemia-X-linked intellectual disability syndrome | 1 | Sep 20, 2019 |
| Alpha-1-antitrypsin deficiency | 1 | Sep 20, 2019 |
| Alport syndrome | 1 | Dec 28, 2021 |
| Alstrom syndrome | 2 | Sep 20, 2019 |
| Alternating hemiplegia of childhood 2 | 3 | Sep 20, 2019 |
| Alveolar capillary dysplasia with pulmonary venous misalignment | 2 | Oct 15, 2021 |
| Amish lethal microcephaly | 2 | Sep 20, 2019 |
| Anemia | 1 | Sep 20, 2019 |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 1 | Sep 20, 2019 |
| Aniridia 1 | 1 | Sep 20, 2019 |
| Aortic aneurysm, familial thoracic 7 | 1 | Sep 20, 2019 |
| Argininosuccinate lyase deficiency | 1 | Sep 20, 2019 |
| Arrhythmogenic right ventricular dysplasia 2 | 1 | Dec 28, 2021 |
| Arrhythmogenic right ventricular dysplasia 8 | 2 | Jul 31, 2020 |
| Ataxia-telangiectasia syndrome | 1 | Sep 20, 2019 |
| Autoimmune lymphoproliferative syndrome type 1 | 1 | Sep 20, 2019 |
| Autosomal dominant KAT6B-related disorders | 2 | Jul 31, 2020 |
| Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | 2 | Oct 15, 2021 |
| Autosomal dominant hypocalcemia 1 | 1 | Sep 20, 2019 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 1 | Sep 20, 2019 |
| Autosomal dominant nocturnal frontal lobe epilepsy 5 | 1 | Jul 31, 2020 |
| Autosomal dominant nonsyndromic hearing loss 3A | 1 | Sep 20, 2019 |
| Autosomal recessive distal spinal muscular atrophy 1 | 2 | Sep 20, 2019 |
| Autosomal recessive multiple pterygium syndrome | 2 | Sep 20, 2019 |
| Autosomal recessive polycystic kidney disease | 2 | Oct 15, 2021 |
| Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | 2 | Sep 20, 2019 |
| Autosomal recessive spinocerebellar ataxia 17 | 2 | Aug 5, 2020 |
| Axenfeld-Rieger syndrome type 3 | 1 | Sep 20, 2019 |
| BCOR-related disorders | 1 | Oct 15, 2021 |
| BRAT1-associated neurodegenerative disorder | 1 | Jul 31, 2020 |
| BRCA2-Related Disorders | 1 | Oct 14, 2021 |
| BRIP1-associated familial cancer predisposition | 1 | Oct 15, 2021 |
| Baraitser-Winter syndrome 1 | 1 | Oct 15, 2021 |
| Bardet-Biedl syndrome 1 | 1 | Sep 20, 2019 |
| Bardet-Biedl syndrome 10 | 2 | Jul 31, 2020 |
| Bardet-Biedl syndrome 2 | 2 | Jul 31, 2020 |
| Bifunctional peroxisomal enzyme deficiency | 3 | Oct 15, 2021 |
| Biotin-responsive basal ganglia disease | 1 | Oct 15, 2021 |
| Bleeding disorder, platelet-type, 21 | 1 | Jul 31, 2020 |
| Brain small vessel disease 1 with or without ocular anomalies | 2 | Oct 15, 2021 |
| Breast and colorectal cancer, susceptibility to | 1 | Jul 31, 2020 |
| Breast cancer, susceptibility to | 1 | Jul 31, 2020 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 2 | Sep 20, 2019 |
| Brugada syndrome 1 | 3 | Sep 20, 2019 |
| CACNA1C-Related Disorders | 1 | Sep 20, 2019 |
| CHARGE association | 9 | Oct 15, 2021 |
| COL2A1-related skeletal dysplasia | 2 | Jul 31, 2020 |
| CREBBP-Related Disorders | 1 | Oct 14, 2021 |
| Campomelic dysplasia with autosomal sex reversal | 2 | Sep 20, 2019 |
| Camptomelic dysplasia | 1 | Jul 31, 2020 |
| Cardiac-urogenital syndrome | 1 | Jul 31, 2020 |
| Cardiomyopathy | 5 | Jul 31, 2020 |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 1 | Dec 28, 2021 |
| Central core disease, autosomal recessive | 2 | Sep 20, 2019 |
| Central core myopathy | 1 | Sep 20, 2019 |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 1 | Sep 20, 2019 |
| Cockayne syndrome type 2 | 2 | Jul 31, 2020 |
| Coffin-Siris syndrome 1 | 1 | Jul 26, 2017 |
| Coffin-Siris syndrome 6 | 1 | Jul 31, 2020 |
| Colorectal cancer, hereditary nonpolyposis, type 4 | 1 | Sep 20, 2019 |
| Colorectal cancer, hereditary nonpolyposis, type 5 | 1 | Oct 15, 2021 |
| Combined immunodeficiency, X-linked | 3 | Oct 14, 2021 |
| Complex cortical dysplasia with other brain malformations 7 | 1 | Sep 20, 2019 |
| Congenital central hypoventilation | 1 | Jul 31, 2020 |
| Congenital central hypoventilation syndrome, with or without Hirschsprung disease | 1 | Jul 31, 2020 |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | 1 | Sep 20, 2019 |
| Congenital heart defects, multiple types, 2 | 1 | Oct 15, 2021 |
| Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | 1 | Jul 31, 2020 |
| Congenital microvillous atrophy | 2 | Jul 31, 2020 |
| Congenital myasthenic syndrome 18 | 1 | Jul 31, 2020 |
| Congenital myasthenic syndrome 4B | 1 | Sep 20, 2019 |
| Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | 1 | Sep 20, 2019 |
| Cornelia de Lange syndrome 1 | 2 | Oct 15, 2021 |
| Cornelia de Lange syndrome 3 | 1 | Jul 31, 2020 |
| Cornelia de Lange syndrome 5 | 1 | Jul 31, 2020 |
| Coronary sclerosis, medial, of infancy | 2 | Sep 20, 2019 |
| Costello syndrome | 1 | Sep 20, 2019 |
| Cystic fibrosis | 2 | Oct 15, 2021 |
| DYRK1A-related disorder | 1 | Oct 14, 2021 |
| De Lange syndrome | 1 | Aug 5, 2020 |
| Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | 1 | Sep 20, 2019 |
| Deletion syndrome | 1 | Feb 21, 2020 |
| Developmental and epileptic encephalopathy 94 | 2 | Oct 15, 2021 |
| Developmental and epileptic encephalopathy, 11 | 1 | Sep 20, 2019 |
| Developmental and epileptic encephalopathy, 19 | 1 | Apr 4, 2017 |
| Developmental and epileptic encephalopathy, 42 | 1 | Sep 20, 2019 |
| Developmental and epileptic encephalopathy, 7 | 3 | Jul 31, 2020 |
| Developmental and epileptic encephalopathy, 9 | 2 | Dec 28, 2021 |
| Diabetes mellitus, transient neonatal, 2 | 1 | Sep 20, 2019 |
| Diamond-Blackfan anemia 6 | 1 | Sep 20, 2019 |
| Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | 1 | Jul 31, 2020 |
| Dilated cardiomyopathy 1A | 1 | Jul 31, 2020 |
| Distal arthrogryposis type 2B1 | 1 | Sep 20, 2019 |
| Distichiasis-lymphedema syndrome | 1 | Sep 20, 2019 |
| Dubin-Johnson syndrome | 2 | Sep 20, 2019 |
| Dystonia 28, childhood-onset | 1 | Sep 20, 2019 |
| Dystonic disorder | 2 | Sep 20, 2019 |
| EEF1A2-related disorders | 1 | Jul 31, 2020 |
| ERCC2-related conditions | 1 | Jul 31, 2020 |
| Early-onset myopathy with fatal cardiomyopathy | 2 | Jul 31, 2020 |
| Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | 2 | Sep 20, 2019 |
| Ellis-van Creveld syndrome | 1 | Jul 31, 2020 |
| Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy | 1 | Jul 31, 2020 |
| Epilepsy | 1 | Sep 20, 2019 |
| Epilepsy, benign neonatal, 1, and/or myokymia | 1 | Sep 20, 2019 |
| Epilepsy, early-onset, vitamin B6-dependent | 2 | Jul 31, 2020 |
| Epilepsy, familial focal, with variable foci 2 | 2 | Jul 31, 2020 |
| Epilepsy, idiopathic generalized, susceptibility to, 15 | 1 | Oct 14, 2021 |
| Episodic ataxia type 2 | 1 | Sep 20, 2019 |
| Episodic ataxia/myokymia syndrome | 1 | Oct 15, 2021 |
| FLNA related disorders | 1 | Oct 14, 2021 |
| FLNC-Related Disorders | 1 | Jul 31, 2020 |
| Factor XIII, A subunit, deficiency of | 1 | Sep 14, 2018 |
| Familial hypercholesterolemia | 3 | Jul 31, 2020 |
| Fanconi anemia | 1 | Sep 20, 2019 |
| Finnish congenital nephrotic syndrome | 1 | Oct 15, 2021 |
| Focal dermal hypoplasia | 1 | Sep 20, 2019 |
| G6PD TOMAH | 1 | Sep 20, 2019 |
| GNAO1-Related Condition | 1 | Oct 15, 2021 |
| Galactosylceramide beta-galactosidase deficiency | 1 | Jul 31, 2020 |
| Gaucher disease type II | 1 | Sep 20, 2019 |
| Glucocorticoid deficiency 1 | 1 | Sep 20, 2019 |
| Glycogen storage disease, type IV | 1 | Sep 20, 2019 |
| Glycogen storage disease, type V | 2 | Sep 20, 2019 |
| Gorlin syndrome | 1 | Jul 31, 2020 |
| Harel-Yoon syndrome | 1 | Sep 20, 2019 |
| Hb SS disease | 2 | Jul 31, 2020 |
| Heart, malformation of | 1 | Sep 20, 2019 |
| Hemolytic anemia, G6PD deficient (favism) | 1 | Jul 31, 2020 |
| Hereditary breast ovarian cancer syndrome | 1 | Oct 15, 2021 |
| Hereditary cancer-predisposing syndrome | 3 | Oct 14, 2021 |
| Hereditary lymphedema type I | 1 | Sep 20, 2019 |
| Hereditary spherocytosis type 2 | 1 | Sep 20, 2019 |
| High density lipoprotein cholesterol level quantitative trait locus 6 | 1 | Sep 20, 2019 |
| Hirschsprung disease, susceptibility to, 1 | 1 | Sep 20, 2019 |
| Holocarboxylase synthetase deficiency | 2 | Sep 20, 2019 |
| Hyaline fibromatosis syndrome | 2 | Jul 31, 2020 |
| Hypercholesterolemia, autosomal dominant, type B | 1 | Jul 31, 2020 |
| Hypercholesterolemia, familial, 1 | 1 | Sep 20, 2019 |
| Hyperinsulinemic hypoglycemia, familial, 1 | 3 | Aug 5, 2020 |
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 1 | Jul 31, 2020 |
| Hypertrophic cardiomyopathy 11 | 1 | Sep 20, 2019 |
| Hypertrophic cardiomyopathy 4 | 4 | Oct 15, 2021 |
| Hypobetalipoproteinemia | 1 | Sep 20, 2019 |
| Hypokalemic periodic paralysis, type 1 | 1 | Jul 31, 2020 |
| Hypophosphatasia | 2 | Oct 15, 2021 |
| Hypotonia, ataxia, and delayed development syndrome | 1 | Sep 20, 2019 |
| Ichthyosis prematurity syndrome | 2 | Jul 31, 2020 |
| Infantile neuroaxonal dystrophy | 2 | Sep 20, 2019 |
| Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 2 | Jul 31, 2020 |
| Intellectual disability, X-linked 102 | 1 | Oct 15, 2021 |
| Intellectual disability, X-linked 99 | 1 | Oct 15, 2021 |
| Intellectual disability, autosomal dominant 14 | 2 | Jul 31, 2020 |
| Intellectual disability, autosomal dominant 45 | 1 | Jul 31, 2020 |
| Intellectual disability, autosomal dominant 5 | 1 | Sep 20, 2019 |
| Intellectual disability, autosomal dominant 51 | 1 | Jul 31, 2020 |
| Intellectual disability, autosomal dominant 52 | 1 | Oct 14, 2021 |
| Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome | 1 | Jul 31, 2020 |
| Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome | 2 | Jul 31, 2020 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 1 | Oct 14, 2021 |
| Interstitial lung disease due to ABCA3 deficiency | 2 | Jul 31, 2020 |
| Intracerebral hemorrhage | 2 | Oct 15, 2021 |
| Isolated sulfite oxidase deficiency | 1 | Apr 14, 2021 |
| Joubert syndrome 14 | 2 | Sep 20, 2019 |
| Joubert syndrome 15 | 2 | Sep 20, 2019 |
| Joubert syndrome 17 | 2 | Jul 31, 2020 |
| Joubert syndrome 27 | 1 | Jul 31, 2020 |
| KARS-related disorders | 1 | Jul 31, 2020 |
| KCNQ2-Related Disorders | 3 | Oct 15, 2021 |
| Kabuki syndrome 1 | 5 | Oct 15, 2021 |
| Kabuki syndrome 2 | 2 | Sep 20, 2019 |
| Lethal congenital contracture syndrome 7 | 2 | Sep 20, 2019 |
| Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | 2 | Jul 31, 2020 |
| Lethal neonatal spasticity-epileptic encephalopathy syndrome | 2 | Sep 20, 2019 |
| Leukodystrophy, hypomyelinating, 14 | 1 | Oct 15, 2021 |
| Loeys-Dietz syndrome 1 | 1 | Sep 20, 2019 |
| Long QT syndrome 1 | 1 | Sep 20, 2019 |
| Lowry-Wood syndrome | 2 | Sep 20, 2019 |
| Luscan-Lumish syndrome | 1 | Sep 20, 2019 |
| Lymphatic malformation 7 | 1 | Sep 20, 2019 |
| MEDNIK syndrome | 1 | Oct 15, 2021 |
| MYBPC3-related cardiomyopathies | 1 | Oct 15, 2021 |
| MYH7-Related Disorders | 2 | Oct 15, 2021 |
| MYRF-Related Disorders | 1 | Oct 15, 2021 |
| Malignant hyperthermia, susceptibility to, 1 | 1 | Sep 20, 2019 |
| Mandibulofacial dysostosis-microcephaly syndrome | 2 | Jul 31, 2020 |
| Maple syrup urine disease | 1 | Sep 20, 2019 |
| Maple syrup urine disease type 1A | 1 | Sep 20, 2019 |
| Marshall-Smith syndrome | 1 | Sep 20, 2019 |
| Matthew-Wood syndrome | 2 | Jul 31, 2020 |
| Medulloblastoma | 1 | Aug 29, 2019 |
| Menkes kinky-hair syndrome | 1 | Jul 31, 2020 |
| Metachromatic leukodystrophy | 2 | Oct 15, 2021 |
| Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | 1 | Sep 20, 2019 |
| Methylcobalamin deficiency type cblG | 1 | Sep 20, 2019 |
| Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 2 | Sep 20, 2019 |
| Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | 2 | Oct 15, 2021 |
| Microcephaly 5, primary, autosomal recessive | 1 | Jul 31, 2020 |
| Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome | 1 | Jul 31, 2020 |
| Mitochondrial DNA depletion syndrome 4b | 2 | Oct 15, 2021 |
| Mitochondrial complex 1 deficiency, nuclear type 12 | 1 | Aug 5, 2020 |
| Mitochondrial complex I deficiency | 3 | Sep 20, 2019 |
| Mitochondrial complex II deficiency, nuclear type 1 | 2 | Sep 20, 2019 |
| Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | 2 | Sep 20, 2019 |
| Mowat-Wilson syndrome | 2 | Sep 20, 2019 |
| Mucocutaneous ulceration | 1 | Sep 20, 2019 |
| Mucopolysaccharidosis type 1 | 1 | Oct 15, 2021 |
| Mucopolysaccharidosis, MPS-IV-A | 1 | Oct 15, 2021 |
| Muenke syndrome | 1 | Sep 20, 2019 |
| Multiminicore myopathy | 1 | Sep 20, 2019 |
| Multiple epiphyseal dysplasia type 1 | 4 | Sep 20, 2019 |
| Multiple epiphyseal dysplasia type 4 | 1 | Sep 20, 2019 |
| Multiple fibrofolliculomas | 1 | Jul 31, 2020 |
| Multiple mitochondrial dysfunctions syndrome 1 | 1 | Oct 15, 2021 |
| Multisystemic smooth muscle dysfunction syndrome | 1 | Jul 31, 2020 |
| Muscular dystrophy-dystroglycanopathy | 1 | Jul 31, 2020 |
| Myoclonic dystonia 11 | 1 | Oct 15, 2021 |
| Myopathy, proximal, and ophthalmoplegia | 1 | Oct 15, 2021 |
| NAD(P)HX dehydratase deficiency | 1 | Jul 31, 2020 |
| Navajo neurohepatopathy | 2 | Jul 31, 2020 |
| Nemaline myopathy 2 | 7 | Jul 31, 2020 |
| Nephrotic syndrome, type 4 | 1 | Apr 29, 2020 |
| Neurodevelopmental disorder | 3 | Jul 31, 2020 |
| Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | 1 | Jul 31, 2020 |
| Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | 1 | Apr 4, 2018 |
| Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | 1 | Oct 15, 2021 |
| Neurofibromatosis, type 1 | 1 | Sep 20, 2019 |
| Nicolaides-Baraitser syndrome | 1 | Jul 31, 2020 |
| Niemann-Pick disease, type C1 | 1 | Apr 4, 2017 |
| Niemann-Pick disease, type C1, juvenile form | 2 | Jul 31, 2020 |
| Non-ketotic hyperglycinemia | 2 | Jul 31, 2020 |
| Noonan syndrome 1 | 1 | Sep 20, 2019 |
| Noonan syndrome 10 | 1 | Sep 20, 2019 |
| Noonan syndrome 12 | 1 | Oct 15, 2021 |
| Noonan syndrome 2 | 1 | Sep 20, 2019 |
| Noonan syndrome 5 | 1 | Jul 31, 2020 |
| Noonan syndrome 8 | 2 | Oct 15, 2021 |
| Noonan syndrome-like disorder with loose anagen hair | 1 | Sep 20, 2019 |
| Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | 1 | Sep 20, 2019 |
| Ornithine carbamoyltransferase deficiency | 5 | Oct 15, 2021 |
| Ovarian Cancers | 1 | Sep 20, 2019 |
| PAX2-related disorder | 1 | Oct 15, 2021 |
| PEX6-Related Disorders | 2 | Jul 31, 2020 |
| PGM1-CDG | 1 | Sep 20, 2019 |
| PHGDH deficiency | 1 | Oct 15, 2021 |
| PIK3CA related overgrowth syndrome | 1 | Oct 15, 2021 |
| PMM2-CDG | 2 | Sep 20, 2019 |
| PTPN11 Related Disorders | 4 | Oct 15, 2021 |
| PURA Syndrome | 1 | Sep 20, 2019 |
| Pancytopenia due to IKZF1 mutations | 1 | Oct 15, 2019 |
| Paragangliomas 5 | 1 | Sep 20, 2019 |
| Permanent neonatal diabetes mellitus | 1 | Apr 22, 2019 |
| Peroxisome biogenesis disorder 1B | 1 | Sep 20, 2019 |
| Peroxisome biogenesis disorder 3A (Zellweger) | 1 | Sep 20, 2019 |
| Phelan-McDermid syndrome | 1 | Oct 14, 2021 |
| Platelet-type bleeding disorder 10 | 2 | Sep 20, 2019 |
| Poirier-Bienvenu neurodevelopmental syndrome | 2 | Oct 15, 2021 |
| Polyagglutinable erythrocyte syndrome | 1 | Sep 20, 2019 |
| Polycystic kidney disease, adult type | 1 | Jul 31, 2020 |
| Polyglandular autoimmune syndrome, type 1 | 2 | Oct 31, 2017 |
| Primary familial hypertrophic cardiomyopathy | 1 | Sep 20, 2019 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 2 | Oct 15, 2021 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 2 | Oct 15, 2021 |
| Progressive myoclonic epilepsy type 7 | 1 | Sep 20, 2019 |
| Progressive sclerosing poliodystrophy | 2 | Oct 15, 2021 |
| Prolidase deficiency | 2 | Jul 31, 2020 |
| Propionic acidemia | 1 | Oct 15, 2021 |
| Pseudo-Hurler polydystrophy | 1 | Sep 20, 2019 |
| Pseudopseudohypoparathyroidism | 1 | Dec 20, 2017 |
| Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia | 1 | Sep 20, 2019 |
| Pyridoxine-dependent epilepsy | 2 | Sep 20, 2019 |
| Pyruvate dehydrogenase E1-alpha deficiency | 2 | Jul 31, 2020 |
| Pyruvate kinase deficiency of red cells | 2 | Oct 15, 2021 |
| RAD51-related disorders | 1 | Oct 15, 2021 |
| RAF1-related disorders | 1 | Oct 15, 2021 |
| RAPSN-Related Disorders | 2 | Oct 15, 2021 |
| Recessive dystrophic epidermolysis bullosa | 1 | Jul 31, 2020 |
| Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | 1 | Sep 20, 2019 |
| Renal hypodysplasia/aplasia 3 | 1 | Sep 20, 2019 |
| Retinal arterial tortuosity | 2 | Oct 15, 2021 |
| Rett syndrome | 2 | Oct 15, 2021 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 1 | Jul 31, 2020 |
| SCN1A Seizure Disorders | 1 | Jul 31, 2020 |
| SCN1A-related conditions | 3 | Oct 14, 2021 |
| SCN2A-Related Disorders | 1 | Oct 15, 2021 |
| SCN4A-Related Disorders | 1 | Jul 31, 2020 |
| SDHA-Related Disorders | 1 | Jul 31, 2020 |
| SETD2-related disorder | 1 | Jul 31, 2020 |
| SLC2A1-Related Disorders | 1 | Jul 31, 2020 |
| SLC35A2-CDG | 2 | Oct 15, 2021 |
| SPTA1-related disorders | 1 | Jul 31, 2020 |
| Scalp-ear-nipple syndrome | 1 | Jul 31, 2020 |
| Schaaf-Yang syndrome | 1 | Sep 20, 2019 |
| Schuurs-Hoeijmakers syndrome | 1 | Oct 15, 2021 |
| Seizures, benign familial neonatal, 1 | 1 | Oct 15, 2021 |
| Seizures, benign familial neonatal, 2 | 2 | Oct 15, 2021 |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 2 | Oct 15, 2021 |
| Severe X-linked myotubular myopathy | 4 | Oct 15, 2021 |
| Severe combined immunodeficiency disease | 1 | Jul 31, 2020 |
| Severe combined immunodeficiency due to CARD11 deficiency | 2 | Sep 20, 2019 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive | 2 | Sep 20, 2019 |
| Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | 1 | Sep 20, 2019 |
| Severe intellectual disability-progressive spastic diplegia syndrome | 1 | Aug 5, 2020 |
| Severe myoclonic epilepsy in infancy | 2 | Aug 5, 2020 |
| Severe neonatal-onset encephalopathy with microcephaly | 1 | Sep 20, 2019 |
| Shprintzen-Goldberg syndrome | 1 | Sep 20, 2019 |
| Shwachman-Diamond syndrome 1 | 1 | Sep 20, 2019 |
| Sifrim-Hitz-Weiss syndrome | 1 | Oct 15, 2021 |
| Sotos syndrome 1 | 1 | Sep 20, 2019 |
| Sphingomyelin/cholesterol lipidosis | 2 | Jul 31, 2020 |
| Spinal muscular atrophy | 2 | Jul 31, 2020 |
| Spinal muscular atrophy with congenital bone fractures 2 | 2 | Oct 15, 2021 |
| Spinocerebellar ataxia 47 | 1 | Jul 31, 2020 |
| Spondyloepiphyseal dysplasia congenita | 1 | Sep 20, 2019 |
| Spongy degeneration of central nervous system | 1 | Sep 20, 2019 |
| Stickler syndrome type 1 | 1 | Sep 20, 2019 |
| Sucrase-isomaltase deficiency | 2 | Jul 31, 2020 |
| Sudden cardiac failure, infantile | 2 | May 20, 2020 |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | 2 | Sep 20, 2019 |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B | 1 | Oct 15, 2021 |
| TARP syndrome | 1 | Jul 31, 2020 |
| TCF12-related craniosynostosis | 1 | Jul 31, 2020 |
| TET3-Related Disease | 3 | Mar 11, 2022 |
| TREX1-Related Disorders | 1 | Oct 15, 2021 |
| TUBA1A-associated tubulinopathy | 1 | Jul 31, 2020 |
| TUBB3-Releated Disorders | 1 | Jul 31, 2020 |
| Tay-Sachs disease | 2 | Jul 31, 2020 |
| Teratoid tumor, atypical | 1 | Sep 20, 2019 |
| Thrombophilia due to thrombin defect | 1 | Sep 20, 2019 |
| Thyroid dyshormonogenesis 6 | 3 | Jul 31, 2020 |
| Torsion dystonia 6 | 1 | Sep 20, 2019 |
| Treacher Collins syndrome 3 | 1 | Sep 20, 2019 |
| Trichorhinophalangeal dysplasia type I | 1 | Sep 20, 2019 |
| Tuberous sclerosis 2 | 1 | Sep 20, 2019 |
| UDPglucose-4-epimerase deficiency | 2 | Aug 5, 2020 |
| Ullrich congenital muscular dystrophy 2 | 1 | Sep 20, 2019 |
| Vanishing white matter disease | 2 | Jul 31, 2020 |
| Very long chain acyl-CoA dehydrogenase deficiency | 1 | Jul 31, 2020 |
| Vici syndrome | 2 | Jul 31, 2020 |
| Visceral heterotaxy | 2 | Sep 20, 2019 |
| Visceral heterotaxy 5, autosomal | 1 | Jul 31, 2020 |
| Visceral myopathy | 2 | Apr 29, 2020 |
| Warfarin response | 1 | Sep 20, 2019 |
| X-linked agammaglobulinemia | 1 | Sep 26, 2018 |
| X-linked central congenital hypothyroidism with late-onset testicular enlargement | 1 | Oct 15, 2021 |
| X-linked intellectual disability, Cantagrel type | 1 | Oct 15, 2021 |
| beta Thalassemia | 1 | Jul 31, 2020 |
| intellectual developmental disorder-50 with behavioral abnormalities (MRD50) | 1 | Oct 14, 2021 |
| not provided | 4 | Aug 6, 2020 |
| not specified | 1 | Oct 14, 2021 |
| von Willebrand disease type 2 | 1 | Sep 20, 2019 |
| von Willebrand disorder | 1 | Aug 5, 2020 |
