| 3-Methylglutaconic aciduria type 2 | 1 | Sep 20, 2019 |
| ACTH resistance | 1 | Sep 20, 2019 |
| ACTN2-related disorders | 1 | Jul 31, 2020 |
| ALG12-congenital disorder of glycosylation | 1 | Jul 31, 2020 |
| ATP1A3-Related Disorders | 1 | Jul 31, 2020 |
| ATTRV122I amyloidosis | 1 | Sep 20, 2019 |
| Acute neuronopathic Gaucher's disease | 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 |
| Alstrom syndrome | 2 | Sep 20, 2019 |
| Alternating hemiplegia of childhood 2 | 3 | Sep 20, 2019 |
| 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 8 | 2 | Jul 31, 2020 |
| Asparagine synthetase deficiency | 1 | Jul 31, 2020 |
| Ataxia-telangiectasia syndrome | 1 | Sep 20, 2019 |
| Autoimmune lymphoproliferative syndrome | 1 | Sep 20, 2019 |
| Autosomal dominant KAT6B-related disorders | 2 | Jul 31, 2020 |
| Autosomal recessive multiple pterygium syndrome | 2 | Sep 20, 2019 |
| Axenfeld-Rieger syndrome type 3 | 1 | Sep 20, 2019 |
| BRAT1-associated neurodegenerative disorder | 1 | Jul 31, 2020 |
| Bardet-Biedl syndrome 1 | 1 | Sep 20, 2019 |
| Bardet-Biedl syndrome 10 | 2 | Jul 31, 2020 |
| Bardet-Biedl syndrome 2 | 2 | Jul 31, 2020 |
| Benign familial neonatal seizures 2 | 1 | Sep 20, 2019 |
| Bifunctional peroxisomal enzyme deficiency | 1 | Aug 4, 2020 |
| Bleeding disorder, platelet-type, 21 | 1 | Jul 31, 2020 |
| Breast and colorectal cancer, susceptibility to | 1 | Jul 31, 2020 |
| Breast cancer, susceptibility to | 1 | Jul 31, 2020 |
| Breast-ovarian cancer, familial 1 | 2 | Sep 20, 2019 |
| Brugada syndrome 1 | 3 | Sep 20, 2019 |
| CACNA1C-Related Disorders | 1 | Sep 20, 2019 |
| CHARGE association | 7 | Jul 31, 2020 |
| COL2A1-related skeletal dysplasia | 2 | Jul 31, 2020 |
| 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 |
| Central core disease, autosomal recessive | 2 | Sep 20, 2019 |
| Central core myopathy | 1 | Sep 20, 2019 |
| Charcot-Marie-Tooth Neuropathy X Type 1 | 1 | Sep 20, 2019 |
| Cockayne syndrome B | 2 | Jul 31, 2020 |
| Coffin-Siris syndrome 1 | 1 | Jul 26, 2017 |
| Coffin-Siris syndrome 6 | 1 | Jul 31, 2020 |
| Combined immunodeficiency, X-linked | 2 | Sep 20, 2019 |
| Combined oxidative phosphorylation deficiency 31 | 2 | Jul 31, 2020 |
| 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 disorder of glycosylation type 1t | 1 | Sep 20, 2019 |
| Congenital disorder of glycosylation, type Ia | 2 | Sep 20, 2019 |
| Congenital microvillous atrophy | 2 | Jul 31, 2020 |
| Cornelia de Lange | 1 | Aug 5, 2020 |
| Cornelia de Lange syndrome 1 | 1 | Sep 20, 2019 |
| 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 |
| Craniosynostosis 3 | 1 | Jul 31, 2020 |
| Cutis laxa, autosomal recessive IIIA | 1 | Sep 20, 2019 |
| DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA | 1 | Sep 20, 2019 |
| Deafness, autosomal dominant 3a | 1 | Sep 20, 2019 |
| Deletion syndrome | 1 | Feb 21, 2020 |
| Diamond-Blackfan anemia 6 | 1 | Sep 20, 2019 |
| Dilated cardiomyopathy 1A | 1 | Jul 31, 2020 |
| Distal arthrogryposis type 2B | 1 | Sep 20, 2019 |
| Distichiasis-lymphedema syndrome | 1 | Sep 20, 2019 |
| Dubin-Johnson syndrome | 2 | Sep 20, 2019 |
| Dursun syndrome | 2 | Sep 20, 2019 |
| Dystonia | 2 | Sep 20, 2019 |
| Dystonia 28, childhood-onset | 1 | Sep 20, 2019 |
| EEF1A2-related disorders | 1 | Jul 31, 2020 |
| ERCC2-related conditions | 1 | Jul 31, 2020 |
| Early infantile epileptic encephalopathy 11 | 1 | Sep 20, 2019 |
| Early infantile epileptic encephalopathy 7 | 3 | Jul 31, 2020 |
| Ellis-van Creveld syndrome | 1 | Jul 31, 2020 |
| Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | 2 | Sep 20, 2019 |
| Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy | 1 | Jul 31, 2020 |
| Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 | 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, nocturnal frontal lobe, 5 | 1 | Jul 31, 2020 |
| Epilepsy, progressive myoclonic 7 | 1 | Sep 20, 2019 |
| Epileptic encephalopathy, childhood-onset | 1 | Jul 31, 2020 |
| Epileptic encephalopathy, early infantile, 19 | 1 | Apr 4, 2017 |
| Epileptic encephalopathy, early infantile, 42 | 1 | Sep 20, 2019 |
| Episodic ataxia type 2 | 1 | Sep 20, 2019 |
| FLNC-Related Disorders | 1 | Jul 31, 2020 |
| Factor XIII, A subunit, deficiency of | 1 | Sep 14, 2018 |
| Familial hypercholesterolemia | 3 | Jul 31, 2020 |
| Familial hypercholesterolemia 1 | 1 | Sep 20, 2019 |
| Familial hypercholesterolemia 2 | 1 | Jul 31, 2020 |
| Familial hypertrophic cardiomyopathy 11 | 1 | Sep 20, 2019 |
| Familial hypertrophic cardiomyopathy 4 | 3 | Jul 31, 2020 |
| Fanconi anemia | 1 | Sep 20, 2019 |
| Focal dermal hypoplasia | 1 | Sep 20, 2019 |
| G6PD TOMAH | 1 | Sep 20, 2019 |
| Galactosylceramide beta-galactosidase deficiency | 1 | Jul 31, 2020 |
| 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 |
| Helsmoortel-Van der Aa Syndrome | 1 | Jul 31, 2020 |
| Hemolytic anemia, G6PD deficient (favism) | 1 | Jul 31, 2020 |
| Hereditary cancer-predisposing syndrome | 2 | Sep 20, 2019 |
| Hereditary lymphedema type I | 1 | Sep 20, 2019 |
| Hereditary nonpolyposis colorectal cancer type 4 | 1 | Sep 20, 2019 |
| High density lipoprotein cholesterol level quantitative trait locus 6 | 1 | Sep 20, 2019 |
| Hirschsprung disease | 1 | Sep 20, 2019 |
| Hirschsprung disease 1 | 1 | Sep 20, 2019 |
| Holocarboxylase synthetase deficiency | 2 | Sep 20, 2019 |
| Hyaline fibromatosis syndrome | 2 | Jul 31, 2020 |
| Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to | 1 | Sep 20, 2019 |
| Hyperinsulinemic hypoglycemia, familial, 1 | 3 | Aug 5, 2020 |
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 1 | Jul 31, 2020 |
| Hypobetalipoproteinemia | 1 | Sep 20, 2019 |
| Hypocalcemia, autosomal dominant 1 | 1 | Sep 20, 2019 |
| Hypokalemic periodic paralysis 1 | 1 | Jul 31, 2020 |
| Hypotonia, ataxia, and delayed development syndrome | 1 | Sep 20, 2019 |
| Ichthyosis prematurity syndrome | 2 | Jul 31, 2020 |
| Immunodeficiency 11 | 2 | Sep 20, 2019 |
| Immunodeficiency, common variable, 13 | 1 | Oct 15, 2019 |
| Infantile neuroaxonal dystrophy | 2 | Sep 20, 2019 |
| Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 2 | Jul 31, 2020 |
| Intellectual disability, autosomal dominant 45 | 1 | Jul 31, 2020 |
| Intellectual disability, autosomal dominant 51 | 1 | Jul 31, 2020 |
| 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 | 2 | Jul 31, 2020 |
| Kabuki syndrome 1 | 4 | Jul 31, 2020 |
| Kabuki syndrome 2 | 2 | Sep 20, 2019 |
| Lethal congenital contracture syndrome 7 | 2 | Sep 20, 2019 |
| Leukoencephalopathy with vanishing white matter | 2 | Jul 31, 2020 |
| 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 |
| METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION | 1 | Sep 20, 2019 |
| 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 |
| Mental retardation, autosomal dominant 14 | 2 | Jul 31, 2020 |
| Mental retardation, autosomal dominant 19 | 1 | Aug 5, 2020 |
| Mental retardation, autosomal dominant 21 | 1 | Jul 31, 2020 |
| Mental retardation, autosomal dominant 32 | 1 | Sep 20, 2019 |
| Mental retardation, autosomal dominant 35 | 2 | Jul 31, 2020 |
| Mental retardation, autosomal dominant 36 | 1 | Jul 31, 2020 |
| Mental retardation, autosomal dominant 5 | 1 | Sep 20, 2019 |
| Mental retardation, autosomal recessive 55 | 1 | Sep 20, 2019 |
| Metaphyseal enchondromatosis 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 |
| Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy | 1 | Jul 31, 2020 |
| Mitochondrial complex 1 deficiency, nuclear type 12 | 1 | Aug 5, 2020 |
| Mitochondrial complex I deficiency | 3 | Sep 20, 2019 |
| Mitochondrial complex II deficiency | 2 | Sep 20, 2019 |
| Mitochondrial short-chain enoyl-coa hydratase 1 deficiency | 2 | Sep 20, 2019 |
| Molybdenum cofactor deficiency, complementation group A | 2 | Sep 20, 2019 |
| Mowat-Wilson syndrome | 2 | Sep 20, 2019 |
| Mucocutaneous ulceration | 1 | Sep 20, 2019 |
| Muenke syndrome | 1 | Sep 20, 2019 |
| Multiminicore Disease | 1 | Sep 20, 2019 |
| Multiple epiphyseal dysplasia 1 | 4 | Sep 20, 2019 |
| Multiple epiphyseal dysplasia type 4 | 1 | Sep 20, 2019 |
| Multiple fibrofolliculomas | 1 | Jul 31, 2020 |
| Multisystemic smooth muscle dysfunction syndrome | 1 | Jul 31, 2020 |
| Muscular dystrophy-dystroglycanopathy | 1 | Jul 31, 2020 |
| Myasthenic syndrome, congenital, 18 | 1 | Jul 31, 2020 |
| Myasthenic syndrome, congenital, 4b, fast-channel | 1 | Sep 20, 2019 |
| Myopathy, early-onset, with fatal cardiomyopathy | 2 | Jul 31, 2020 |
| Navajo neurohepatopathy | 2 | Jul 31, 2020 |
| Nemaline myopathy 2 | 7 | Jul 31, 2020 |
| Nemaline myopathy 3 | 2 | Sep 20, 2019 |
| 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 |
| 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 2 | 1 | Sep 20, 2019 |
| Noonan syndrome 5 | 1 | Jul 31, 2020 |
| 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 | 2 | Jul 31, 2020 |
| Ovarian Cancers | 1 | Sep 20, 2019 |
| PEX6-Related Disorders | 2 | Jul 31, 2020 |
| PTPN11 Related Disorders | 2 | Jul 31, 2020 |
| PURA Syndrome | 1 | Sep 20, 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 | 1 | Sep 20, 2019 |
| Persistent pulmonary hypertension of the newborn | 1 | Sep 20, 2019 |
| Platelet glycoprotein IV deficiency | 2 | Sep 20, 2019 |
| 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 |
| Polymicrogyria, asymmetric | 1 | Sep 20, 2019 |
| Primary autosomal recessive microcephaly 5 | 1 | Jul 31, 2020 |
| Primary familial hypertrophic cardiomyopathy | 1 | Sep 20, 2019 |
| Prolidase deficiency | 2 | Jul 31, 2020 |
| 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 |
| Recessive dystrophic epidermolysis bullosa | 1 | Jul 31, 2020 |
| Renal hypodysplasia/aplasia 3 | 1 | Sep 20, 2019 |
| Rett syndrome | 1 | Jul 31, 2020 |
| Rigidity and multifocal seizure syndrome, lethal neonatal | 2 | Sep 20, 2019 |
| Rubinstein-Taybi syndrome 1 | 1 | Jul 31, 2020 |
| SCN1A Seizure Disorders | 1 | Jul 31, 2020 |
| 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 | 1 | Jul 31, 2020 |
| SPTA1-related disorders | 1 | Jul 31, 2020 |
| Scalp-ear-nipple syndrome | 1 | Jul 31, 2020 |
| Schaaf-Yang syndrome | 1 | Sep 20, 2019 |
| Severe X-linked myotubular myopathy | 1 | Jul 31, 2020 |
| Severe combined immunodeficiency disease | 1 | Jul 31, 2020 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive | 2 | Sep 20, 2019 |
| 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 |
| Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay | 1 | Sep 20, 2019 |
| Sotos syndrome 1 | 1 | Sep 20, 2019 |
| Spherocytosis type 2 | 1 | Sep 20, 2019 |
| Sphingomyelin/cholesterol lipidosis | 2 | Jul 31, 2020 |
| Spinal muscular atrophy | 2 | Jul 31, 2020 |
| Spinal muscular atrophy, distal, autosomal recessive, 1 | 2 | Sep 20, 2019 |
| Spinocerebellar ataxia 47 | 1 | Jul 31, 2020 |
| Spinocerebellar ataxia, autosomal recessive 17 | 2 | Aug 5, 2020 |
| Spinocerebellar ataxia, autosomal recessive 21 | 1 | Sep 20, 2019 |
| 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 |
| Surfactant metabolism dysfunction, pulmonary, 3 | 2 | Jul 31, 2020 |
| TARP syndrome | 1 | Jul 31, 2020 |
| 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 |
| Three M syndrome 1 | 2 | Jul 31, 2020 |
| Thrombophilia due to thrombin defect | 1 | Sep 20, 2019 |
| Thyroid dyshormonogenesis 6 | 3 | Jul 31, 2020 |
| Torsion dystonia 6 | 1 | Sep 20, 2019 |
| Transient neonatal diabetes mellitus 2 | 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 |
| Very long chain acyl-CoA dehydrogenase deficiency | 1 | Jul 31, 2020 |
| Vici syndrome | 2 | Jul 31, 2020 |
| 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 |
| beta Thalassemia | 1 | Jul 31, 2020 |
| congenital heart defect | 1 | Sep 20, 2019 |
| heterotaxia syndrome | 2 | Sep 20, 2019 |
| not provided | 4 | Aug 6, 2020 |
| von Willebrand disease type 2 | 1 | Sep 20, 2019 |
| von Willebrand disorder | 1 | Aug 5, 2020 |
