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 |