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 |