1q21.1 recurrent microdeletion | 1 | Jan 30, 2019 |
2-aminoadipic 2-oxoadipic aciduria | 1 | Mar 13, 2018 |
3 Methylcrotonyl-CoA carboxylase 1 deficiency | 1 | Aug 22, 2017 |
3-Methylglutaconic aciduria type 3 | 1 | Mar 13, 2018 |
3-methylcrotonyl CoA carboxylase 2 deficiency | 1 | Aug 22, 2017 |
ABCB4-related disorders | 1 | Mar 13, 2018 |
ABCD syndrome | 1 | Mar 13, 2018 |
ABL1-Related Disorder | 1 | Apr 20, 2020 |
ACO2-related disorder | 1 | Aug 22, 2017 |
ACO2-related disorders | 1 | Aug 22, 2017 |
ACTG2-Related Disorder | 1 | Jan 30, 2019 |
AKT3-Related Disorder | 1 | Apr 20, 2020 |
ALG2-CDG | 1 | Apr 20, 2020 |
AP4S1-related disorder | 1 | Apr 20, 2020 |
APS41-Related disorder | 1 | Apr 20, 2020 |
ASH1L-Related Disorder | 1 | Apr 20, 2020 |
ATRX-Related Disorder | 1 | Aug 22, 2017 |
Abnormality of the pancreas | 1 | Apr 20, 2020 |
Achondroplasia | 1 | Mar 13, 2018 |
Acromelic frontonasal dysostosis | 2 | Jan 30, 2019 |
Acromesomelic dysplasia, Maroteaux type | 1 | Apr 20, 2020 |
Acute Porphyria | 2 | Aug 22, 2017 |
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 1 | Aug 22, 2017 |
Acute myeloid leukemia | 2 | Mar 13, 2018 |
Acute neuronopathic Gaucher's disease | 1 | Jan 30, 2019 |
Adams-Oliver syndrome 2 | 1 | Mar 13, 2018 |
Adams-Oliver syndrome 5 | 2 | Jan 30, 2019 |
Agammaglobulinemia 7, autosomal recessive | 1 | Mar 13, 2018 |
Agenesis of the corpus callosum with peripheral neuropathy | 1 | Aug 22, 2017 |
Aicardi-Goutieres syndrome 7 | 1 | Apr 20, 2020 |
Alpha-1-antitrypsin deficiency | 1 | Aug 22, 2017 |
Alpha-thalassemia and related diseases | 1 | Mar 13, 2018 |
Alport syndrome 1, X-linked recessive | 1 | Jan 30, 2019 |
Alstrom syndrome | 2 | Jan 30, 2019 |
Amyloidogenic transthyretin amyloidosis | 1 | Apr 20, 2020 |
Amyotrophic lateral sclerosis type 1 | 1 | Apr 20, 2020 |
Angelman syndrome | 2 | Apr 20, 2020 |
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | 1 | Mar 13, 2018 |
Anterior segment dysgenesis 1 | 1 | Jan 30, 2019 |
Aortic aneurysm, familial thoracic 10 | 1 | Apr 20, 2020 |
Aortic aneurysm, familial thoracic 4 | 1 | Jan 30, 2019 |
Aortic aneurysm, familial thoracic 7 | 1 | Aug 22, 2017 |
Aortic aneurysm, familial thoracic 8 | 1 | Jan 30, 2019 |
Aortic valve disorder | 2 | Jan 30, 2019 |
Arginase deficiency | 1 | Mar 13, 2018 |
Arterial tortuosity syndrome | 1 | Apr 20, 2020 |
Ataxia-telangiectasia syndrome | 2 | Jan 30, 2019 |
Ataxia-telangiectasia-like disorder 1 | 1 | Apr 20, 2020 |
Atrial fibrillation, familial, 12 | 1 | Nov 17, 2017 |
Autism spectrum disorder | 1 | Mar 13, 2018 |
Autism, susceptibility to, 18 | 1 | Mar 13, 2018 |
Autism, susceptibility to, X-linked 6 | 1 | Jan 30, 2019 |
Autosomal dominant distal renal tubular acidosis | 1 | Mar 13, 2018 |
Autosomal dominant familial acute myeloid leukemia | 1 | Aug 22, 2017 |
Autosomal dominant nonsyndromic deafness 17 | 1 | Aug 22, 2017 |
Autosomal dominant nonsyndromic deafness 6 | 3 | Mar 13, 2018 |
Autosomal dominant optic atrophy classic form | 2 | Mar 13, 2018 |
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | 2 | Mar 13, 2018 |
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 | 1 | Apr 20, 2020 |
Autosomal dominant retinitis pigmentosa | 1 | Aug 22, 2017 |
Autosomal dominant torsion dystonia 4 | 1 | Apr 20, 2020 |
Autosomal recessive DOPA responsive dystonia | 1 | Mar 13, 2018 |
Autosomal recessive congenital ichthyosis 3 | 2 | Apr 20, 2020 |
Autosomal recessive cutis laxa type IA | 1 | Apr 20, 2020 |
Autosomal recessive limb-girdle muscular dystrophy type 2B | 1 | Jan 30, 2019 |
Autosomal recessive limb-girdle muscular dystrophy type 2G | 1 | Jan 30, 2019 |
Autosomal recessive multiple pterygium syndrome | 1 | Aug 22, 2017 |
Autosomal recessive osteopetrosis 1 | 1 | Aug 22, 2017 |
Autosomal recessive polycystic kidney disease | 5 | Jan 30, 2019 |
BRWD3-Related Disorder | 1 | Jan 30, 2019 |
Bainbridge-Ropers syndrome | 3 | Apr 20, 2020 |
Bardet-Biedl syndrome | 1 | Aug 22, 2017 |
Bardet-Biedl syndrome 1 | 1 | Apr 20, 2020 |
Bardet-Biedl syndrome 20 | 1 | Jan 30, 2019 |
Becker muscular dystrophy | 4 | Apr 20, 2020 |
Benign familial neonatal seizures | 1 | Apr 20, 2020 |
Bernard Soulier syndrome | 2 | Mar 13, 2018 |
Bernard-Soulier syndrome, type A2, autosomal dominant | 1 | Mar 13, 2018 |
Beta-D-mannosidosis | 1 | Mar 13, 2018 |
Beta-thalassemia, dominant inclusion body type | 1 | Mar 13, 2018 |
Bethlem myopathy 1 | 4 | Apr 20, 2020 |
Bethlem myopathy 2 | 1 | Apr 20, 2020 |
Bifunctional peroxisomal enzyme deficiency | 1 | Aug 22, 2017 |
Biotinidase deficiency | 3 | Apr 20, 2020 |
Brachydactyly | 1 | Apr 20, 2020 |
Brachydactyly type A2 | 1 | Aug 22, 2017 |
Brachydactyly type B1 | 1 | Aug 22, 2017 |
Brain small vessel disease 1 with or without ocular anomalies | 1 | Mar 13, 2018 |
Brain small vessel disease with hemorrhage | 1 | Mar 13, 2018 |
Breast cancer, susceptibility to | 1 | Jan 30, 2019 |
Breast-ovarian cancer, familial 1 | 1 | Apr 20, 2020 |
Breast-ovarian cancer, familial 2 | 3 | Apr 20, 2020 |
Breast-ovarian cancer, familial 3 | 2 | Apr 20, 2020 |
Breast-ovarian cancer, familial 4 | 1 | Apr 20, 2020 |
Brittle cornea syndrome 1 | 2 | Jan 30, 2019 |
Bronze diabetes | 2 | Apr 20, 2020 |
Brugada syndrome | 3 | Aug 22, 2017 |
CACNA1A-Related Disorder | 2 | Apr 20, 2020 |
CACNA1C-Related Disorder | 1 | Jan 30, 2019 |
CACNA1G-related disorders | 1 | Aug 22, 2017 |
CACNA1H-related disorder | 1 | Nov 17, 2017 |
CASK-Related Disorder | 2 | Jan 30, 2019 |
CEP290-related ciliopathies | 1 | Aug 22, 2017 |
CHARGE association | 1 | Aug 22, 2017 |
CHD2-Related Disorder | 1 | Jan 30, 2019 |
CHD3-Related Disorder | 2 | Apr 20, 2020 |
CHD8-Related Disorders | 1 | Mar 13, 2018 |
CLCN4-related disorder | 1 | Aug 22, 2017 |
CLTC-Related Disorder | 1 | Jan 30, 2019 |
CNOT1-Related Disorder | 2 | Apr 20, 2020 |
COL11A2- Related Disorder | 1 | Jan 30, 2019 |
COL12A1- Related Disorder | 1 | Apr 20, 2020 |
COL1A2-Related Disorder | 3 | Jan 30, 2019 |
COL2A1-Related Disorder | 1 | Mar 13, 2018 |
COL3A1-Related Disorder | 1 | Jan 30, 2019 |
COL4A1-Related Disorder | 1 | Aug 22, 2017 |
COL6A1-related Disorder | 1 | Aug 22, 2017 |
CSNK2A1- Related Disorders | 1 | Aug 22, 2017 |
CTCF-Related Disorder | 1 | Apr 20, 2020 |
Camptodactyly-tall stature-scoliosis-hearing loss syndrome | 1 | Mar 13, 2018 |
Cardiac arrhythmia | 1 | Aug 22, 2017 |
Cardiac arrhythmia, ankyrin B-related | 2 | Apr 20, 2020 |
Cardiac valvular dysplasia, X-linked | 1 | Aug 22, 2017 |
Cardiomyopathy | 2 | Dec 15, 2017 |
Carney complex | 1 | Aug 22, 2017 |
Carney-Stratakis syndrome | 1 | Mar 13, 2018 |
Carnitine palmitoyltransferase II deficiency | 1 | Apr 20, 2020 |
Carnitine palmitoyltransferase II deficiency, lethal neonatal | 1 | Apr 20, 2020 |
Cataract 5 multiple types | 1 | Mar 13, 2018 |
Catecholaminergic polymorphic ventricular tachycardia type 1 | 2 | Apr 20, 2020 |
Central core myopathy | 3 | Apr 20, 2020 |
Centronuclear myopathy | 1 | Aug 22, 2017 |
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 | 1 | Jan 30, 2019 |
Cerebellar ataxia, nonprogressive, with mental retardation | 1 | Apr 20, 2020 |
Ceroid lipofuscinosis neuronal 2 | 3 | Jul 17, 2020 |
Charcot-Marie-Tooth disease and deafness | 1 | Jan 30, 2019 |
Charcot-Marie-Tooth disease axonal type 2C | 1 | Jan 30, 2019 |
Charcot-Marie-Tooth disease type 2B1 | 2 | Jan 30, 2019 |
Charcot-Marie-Tooth disease type 2D | 1 | Aug 22, 2017 |
Charcot-Marie-Tooth disease type 2J | 1 | Jan 30, 2019 |
Charcot-Marie-Tooth disease type 2P | 2 | Aug 22, 2017 |
Charcot-Marie-Tooth disease, axonal, type 2O | 1 | Apr 20, 2020 |
Charcot-Marie-Tooth disease, axonal, type 2Q | 1 | Mar 13, 2018 |
Charcot-Marie-Tooth disease, axonal, type 2z | 1 | Jan 30, 2019 |
Charcot-Marie-Tooth disease, demyelinating, type 1b | 2 | Jan 30, 2019 |
Charcot-Marie-Tooth disease, recessive intermediate c | 1 | Jan 30, 2019 |
Charcot-Marie-Tooth disease, type 2L | 2 | Apr 20, 2020 |
Charcot-Marie-Tooth disease, type 2N | 1 | Aug 22, 2017 |
Charcot-Marie-Tooth disease, type 4k | 1 | Mar 13, 2018 |
Charcot-Marie-Tooth disease, type IA | 1 | Jan 30, 2019 |
Charlevoix-Saguenay spastic ataxia | 2 | Mar 13, 2018 |
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | 2 | Jul 17, 2020 |
Cholestanol storage disease | 1 | Apr 20, 2020 |
Chromosome 15q13.3 microdeletion syndrome | 1 | Aug 22, 2017 |
Chromosome 2q23.1 deletion syndrome | 2 | Jan 30, 2019 |
Chromosome Xp21 deletion syndrome | 1 | Jan 30, 2019 |
Chromosome Xq28 deletion syndrome | 1 | Aug 22, 2017 |
Chronic infantile neurological, cutaneous and articular syndrome | 1 | Aug 22, 2017 |
Ciliary dyskinesia, primary, 11 | 1 | Aug 22, 2017 |
Ciliary dyskinesia, primary, 34 | 1 | Mar 13, 2018 |
Citrullinemia type I | 1 | Aug 22, 2017 |
Cobalamin C disease | 1 | Jan 30, 2019 |
Coffin-Siris syndrome | 2 | Apr 20, 2020 |
Coffin-Siris syndrome 1 | 1 | Apr 20, 2020 |
Cohen syndrome | 4 | Mar 13, 2018 |
Collagen VI-related myopathy | 2 | Mar 13, 2018 |
Colon cancer, susceptibility to | 1 | Jan 30, 2019 |
Combined oxidative phosphorylation deficiency 11 | 1 | Aug 22, 2017 |
Combined oxidative phosphorylation deficiency 12 | 3 | Apr 20, 2020 |
Combined oxidative phosphorylation deficiency 13 | 1 | Jan 30, 2019 |
Combined oxidative phosphorylation deficiency 15 | 1 | Aug 22, 2017 |
Combined oxidative phosphorylation deficiency 16 | 1 | Mar 13, 2018 |
Combined oxidative phosphorylation deficiency 20 | 1 | Mar 13, 2018 |
Combined oxidative phosphorylation deficiency 23 | 1 | Apr 20, 2020 |
Combined oxidative phosphorylation deficiency 24 | 1 | Aug 22, 2017 |
Combined oxidative phosphorylation deficiency 27 | 1 | Mar 13, 2018 |
Combined oxidative phosphorylation deficiency 9 | 1 | Aug 22, 2017 |
Common variable immunodeficiency 2 | 1 | Mar 13, 2018 |
Cone-rod dystrophy | 1 | Jan 30, 2019 |
Congenital aneurysm of ascending aorta | 1 | Jan 30, 2019 |
Congenital aniridia | 1 | Mar 13, 2018 |
Congenital contractural arachnodactyly | 2 | Apr 20, 2020 |
Congenital contractures of the limbs and face, hypotonia, and developmental delay | 1 | Apr 20, 2020 |
Congenital disorder of glycosylation type 1t | 1 | Aug 22, 2017 |
Congenital disorder of glycosylation type 1x | 1 | Mar 13, 2018 |
Congenital disorder of glycosylation type 2L | 1 | Mar 13, 2018 |
Congenital disorder of glycosylation type Ir | 2 | Mar 13, 2018 |
Congenital fiber-type disproportion | 1 | Aug 22, 2017 |
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 1 | Apr 20, 2020 |
Congenital hyperammonemia, type I | 1 | Mar 13, 2018 |
Congenital hypomyelinating neuropathy | 1 | Jan 30, 2019 |
Congenital hypothyroidism | 1 | Jan 30, 2019 |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 1 | Jan 30, 2019 |
Congenital muscular dystrophy, LMNA-related | 2 | Jan 30, 2019 |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | 2 | Jan 30, 2019 |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 | 2 | Jan 30, 2019 |
Congenital myasthenic syndrome 13 | 1 | Jan 30, 2019 |
Congenital myopathy with fiber type disproportion | 1 | Apr 20, 2020 |
Congenital primary aphakia | 1 | Jan 30, 2019 |
Congenital stationary night blindness | 1 | Aug 22, 2017 |
Congenital stationary night blindness, type 1F | 1 | Jan 30, 2019 |
Cornelia de Lange syndrome 1 | 1 | Apr 20, 2020 |
Coronary artery disease | 1 | Jan 30, 2019 |
Cortical dysplasia, complex, with other brain malformations 2 | 1 | Apr 20, 2020 |
Cortical dysplasia, complex, with other brain malformations 6 | 1 | Apr 20, 2020 |
Corticosterone methyloxidase type 2 deficiency | 1 | Apr 20, 2020 |
Cowden syndrome 1 | 1 | Mar 13, 2018 |
Craniosynostosis 3 | 1 | Jan 30, 2019 |
Creatine transporter deficiency | 1 | Mar 13, 2018 |
Crouzon syndrome with acanthosis nigricans | 1 | Mar 13, 2018 |
Cutis Laxa Syndrome | 1 | Aug 22, 2017 |
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities | 2 | Apr 20, 2020 |
Cutis laxa, autosomal dominant 1 | 1 | Mar 13, 2018 |
Cutis laxa, autosomal dominant 2 | 1 | Apr 20, 2020 |
Cutis laxa, autosomal dominant 3 | 1 | Aug 22, 2017 |
Cutis laxa, autosomal recessive IIIA | 1 | Aug 22, 2017 |
Cystic fibrosis | 5 | Apr 20, 2020 |
DCTN1-Related Disorder | 2 | Jan 30, 2019 |
DDX3X-Related Disorder | 2 | Apr 20, 2020 |
DEPDC5-Related Disorder | 2 | Aug 22, 2017 |
DIABLO-Related Hearing Loss | 1 | Apr 20, 2020 |
DLG3-Related Disorder | 1 | Apr 20, 2020 |
DMD-Related Disorder | 1 | Apr 20, 2020 |
DNMT1-Related Disorder | 1 | Aug 22, 2017 |
DNMT3A-Related Disorder | 1 | Apr 20, 2020 |
DPAGT1-CDG | 1 | Jan 30, 2019 |
DSPP-Related Disorder | 1 | Apr 20, 2020 |
DYNC1H1-related disorders | 1 | Aug 22, 2017 |
DYNC2H1-Related Disorder | 2 | Apr 20, 2020 |
DYSF- Related Disorder | 1 | Aug 22, 2017 |
Deafness | 3 | Aug 22, 2017 |
Deafness, autosomal dominant 11 | 1 | Jan 30, 2019 |
Deafness, autosomal dominant 13 | 2 | Jan 30, 2019 |
Deafness, autosomal dominant 3a | 1 | Apr 20, 2020 |
Deafness, autosomal dominant 4 | 1 | Apr 20, 2020 |
Deafness, autosomal recessive 106 | 1 | Jan 30, 2019 |
Deafness, autosomal recessive 12 | 2 | Jan 30, 2019 |
Deafness, autosomal recessive 16 | 2 | Apr 20, 2020 |
Deafness, autosomal recessive 2 | 1 | Jan 30, 2019 |
Deafness, autosomal recessive 53 | 2 | Jan 30, 2019 |
Deafness, autosomal recessive 70 | 1 | Jan 30, 2019 |
Deafness, autosomal recessive 77 | 2 | Jan 30, 2019 |
Deafness, autosomal recessive 84b | 3 | Apr 21, 2020 |
Deafness, autosomal recessive 98 | 1 | Jan 30, 2019 |
Deficiency of butyryl-CoA dehydrogenase | 3 | Aug 22, 2017 |
Deficiency of butyrylcholine esterase | 2 | Aug 22, 2017 |
Deficiency of iodide peroxidase | 1 | Jul 17, 2020 |
Deficiency of isobutyryl-CoA dehydrogenase | 1 | Aug 22, 2017 |
Deficiency of steroid 17-alpha-monooxygenase | 3 | Apr 20, 2020 |
Deficiency of transaldolase | 1 | Jan 30, 2019 |
Dejerine-Sottas disease | 2 | Jan 30, 2019 |
Desmoid disease, hereditary | 1 | Mar 13, 2018 |
Developmental and epileptic encephalopathy, 64 | 1 | Apr 20, 2020 |
Developmental delay | 1 | Apr 20, 2020 |
Dihydropyrimidine dehydrogenase deficiency | 1 | Mar 13, 2018 |
Dilatation of the thoracic aorta | 1 | Aug 22, 2017 |
Dilated cardiomyopathy 1A | 3 | Jan 30, 2019 |
Dilated cardiomyopathy 1G | 6 | Apr 20, 2020 |
Dilated cardiomyopathy 1GG | 1 | Aug 22, 2017 |
Dilated cardiomyopathy 1O | 1 | Nov 17, 2017 |
Dilated cardiomyopathy 1W | 1 | Mar 13, 2018 |
Dilated cardiomyopathy 3B | 1 | Aug 22, 2017 |
Distal hereditary motor neuronopathy type 5 | 1 | Aug 22, 2017 |
Distal spinal muscular atrophy, autosomal recessive 4 | 1 | Jan 30, 2019 |
Donnai-Barrow syndrome | 3 | Jan 30, 2019 |
Duane syndrome type 1 | 1 | Mar 13, 2018 |
Duchenne muscular dystrophy | 4 | Apr 20, 2020 |
Dystonia 28, childhood-onset | 1 | Apr 20, 2020 |
Dystonia 9 | 1 | Aug 22, 2017 |
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 2 | Apr 20, 2020 |
Dystonia, primary cervical | 1 | Mar 13, 2018 |
Dystrophic epidermolysis bullosa | 2 | Apr 20, 2020 |
EAST syndrome | 1 | Jan 30, 2019 |
ELP2-Related Disorders | 2 | Aug 22, 2017 |
EMC1-Related Disorder | 2 | Jan 30, 2019 |
EZH2-related disorder | 1 | Apr 20, 2020 |
Early infantile epileptic encephalopathy 10 | 1 | Apr 20, 2020 |
Early infantile epileptic encephalopathy 11 | 2 | Apr 20, 2020 |
Early infantile epileptic encephalopathy 18 | 4 | Apr 20, 2020 |
Early infantile epileptic encephalopathy 2 | 1 | Apr 20, 2020 |
Early onset epileptic encephalopathy | 3 | Apr 20, 2020 |
Ectodermal dysplasia-syndactyly syndrome 1 | 1 | Aug 22, 2017 |
Ectopia lentis | 1 | Jan 30, 2019 |
Ehlers-Danlos syndrome | 1 | Aug 22, 2017 |
Ehlers-Danlos syndrome classic type 2 | 1 | Apr 20, 2020 |
Ehlers-Danlos syndrome progeroid type | 3 | Jan 30, 2019 |
Ehlers-Danlos syndrome, cardiac valvular type | 2 | Apr 20, 2020 |
Ehlers-Danlos syndrome, classic type | 13 | Apr 20, 2020 |
Ehlers-Danlos syndrome, musculocontractural type | 1 | Aug 22, 2017 |
Ehlers-Danlos syndrome, procollagen proteinase deficient | 3 | Apr 20, 2020 |
Ehlers-Danlos syndrome, type 3 | 2 | Jan 30, 2019 |
Ehlers-Danlos syndrome, type 4 | 8 | Apr 20, 2020 |
Ehlers-danlos syndrome, arthrochalasia type, 2 | 1 | Apr 20, 2020 |
Elliptocytosis 1 | 1 | Mar 13, 2018 |
Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 2 | Jan 30, 2019 |
Emery-Dreifuss muscular dystrophy 3, autosomal recessive | 1 | Jan 30, 2019 |
Endometrial carcinoma | 1 | Mar 13, 2018 |
Epidermolysis bullosa simplex with muscular dystrophy | 1 | Aug 22, 2017 |
Epidermolysis bullosa simplex with pyloric atresia | 1 | Aug 22, 2017 |
Epidermolysis bullosa simplex, Ogna type | 1 | Aug 22, 2017 |
Epilepsy, childhood absence 6 | 2 | Jan 30, 2019 |
Epilepsy, familial temporal lobe, 7 | 1 | Mar 13, 2018 |
Epilepsy, focal, with speech disorder and with or without mental retardation | 1 | Apr 20, 2020 |
Epilepsy, idiopathic generalized, susceptibility to, 12 | 1 | Aug 22, 2017 |
Epilepsy, nocturnal frontal lobe, type 1 | 1 | Jan 30, 2019 |
Epileptic encephalopathy, childhood-onset | 2 | Apr 20, 2020 |
Epileptic encephalopathy, early infantile, 32 | 1 | Apr 20, 2020 |
Epileptic encephalopathy, early infantile, 33 | 1 | Jan 30, 2019 |
Epileptic encephalopathy, early infantile, 43 | 1 | Apr 20, 2020 |
Epileptic encephalopathy, early infantile, 54 | 1 | Apr 20, 2020 |
Epileptic encephalopathy, infantile or early childhood 2 | 2 | Apr 20, 2020 |
Epiphyseal dysplasia, multiple, 2 | 1 | Aug 22, 2017 |
Episodic ataxia type 1 | 1 | Mar 13, 2018 |
Episodic ataxia type 2 | 1 | Jan 30, 2019 |
Episodic kinesigenic dyskinesia 1 | 1 | Apr 20, 2020 |
Episodic pain syndrome, familial, 3 | 1 | Apr 20, 2020 |
Essential hypertension | 1 | Mar 13, 2018 |
Ethylmalonic encephalopathy | 1 | Aug 22, 2017 |
FBN1-Related Disorders | 1 | Jan 30, 2019 |
FG syndrome 2 | 1 | Aug 22, 2017 |
FKRP-Related Disorder | 1 | Jan 30, 2019 |
FLG-Related Disorder | 1 | Mar 13, 2018 |
FLNA-related disorder | 1 | Aug 22, 2017 |
FLNB-Related Disorder | 1 | Aug 22, 2017 |
Fabry disease | 3 | Mar 13, 2018 |
Facioscapulohumeral muscular dystrophy 2 | 1 | Aug 22, 2017 |
Familial Mediterranean fever | 3 | Apr 20, 2020 |
Familial adenomatous polyposis 1 | 3 | Apr 20, 2020 |
Familial adenomatous polyposis 4 | 1 | Mar 13, 2018 |
Familial amyloid nephropathy with urticaria AND deafness | 1 | Aug 22, 2017 |
Familial cancer of breast | 2 | Apr 20, 2020 |
Familial cardiomyopathy | 1 | Aug 22, 2017 |
Familial cold autoinflammatory syndrome 1 | 1 | Aug 22, 2017 |
Familial cold autoinflammatory syndrome 2 | 1 | Apr 20, 2020 |
Familial exudative vitreoretinopathy | 1 | Aug 22, 2017 |
Familial hemiplegic migraine type 1 | 1 | Jan 30, 2019 |
Familial hemophagocytic lymphohistiocytosis | 1 | Aug 22, 2017 |
Familial hypercholesterolemia 1 | 2 | Mar 13, 2018 |
Familial hypercholesterolemia 2 | 1 | Mar 13, 2018 |
Familial hypertrophic cardiomyopathy 1 | 2 | Apr 20, 2020 |
Familial hypertrophic cardiomyopathy 15 | 1 | Mar 13, 2018 |
Familial hypertrophic cardiomyopathy 4 | 2 | Aug 22, 2017 |
Familial hypertrophic cardiomyopathy 9 | 5 | Apr 20, 2020 |
Familial infantile myasthenia | 1 | Mar 13, 2018 |
Familial medullary thyroid carcinoma | 1 | Aug 22, 2017 |
Familial thoracic aortic aneurysm | 3 | Jan 30, 2019 |
Familial thoracic aortic aneurysm and aortic dissection | 4 | Apr 20, 2020 |
Fanconi anemia | 1 | Aug 22, 2017 |
Fanconi anemia, complementation group D1 | 1 | Aug 22, 2017 |
Fanconi anemia, complementation group M | 1 | Mar 13, 2018 |
Fanconi anemia, complementation group N | 1 | Apr 20, 2020 |
Farber disease | 1 | Mar 13, 2018 |
Fetal hemoglobin quantitative trait locus 1 | 1 | Mar 13, 2018 |
Fibrochondrogenesis 1 | 1 | Apr 20, 2020 |
Fibrochondrogenesis 2 | 3 | Apr 20, 2020 |
Focal cortical dysplasia type II | 1 | Apr 20, 2020 |
Focal segmental glomerulosclerosis 8 | 1 | Jan 30, 2019 |
Frontometaphyseal dysplasia 1 | 1 | Aug 22, 2017 |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 1 | Mar 13, 2018 |
Fructose-biphosphatase deficiency | 1 | Aug 22, 2017 |
Fundus albipunctatus, autosomal recessive | 1 | Jan 30, 2019 |
GABRA6-Related Disorder | 1 | Aug 22, 2017 |
GABRG2-Related Disorder | 1 | Aug 22, 2017 |
GATAD2B-Related Disorder | 2 | Jan 30, 2019 |
GLUT1 deficiency syndrome | 1 | Apr 20, 2020 |
GLUT1 deficiency syndrome 1 | 1 | Aug 22, 2017 |
GLUT1 deficiency syndrome 2 | 2 | Mar 13, 2018 |
GNB1-Related Disorder | 1 | Apr 20, 2020 |
GNE myopathy | 1 | Apr 20, 2020 |
GRIA3-Related Disorder | 1 | Aug 22, 2017 |
GRIN1-Related Disorder | 2 | Jan 30, 2019 |
GRIN2B-Related Disorder | 1 | Jan 30, 2019 |
Gamma-aminobutyric acid transaminase deficiency | 1 | Aug 22, 2017 |
Gastrointestinal stromal tumor | 1 | Mar 13, 2018 |
Gaucher disease | 1 | Aug 22, 2017 |
Gaucher disease type 3C | 1 | Jan 30, 2019 |
Gaucher disease, perinatal lethal | 1 | Jan 30, 2019 |
Gaucher's disease, type 1 | 1 | Jan 30, 2019 |
Generalized juvenile polyposis/juvenile polyposis coli | 1 | Apr 20, 2020 |
Gillespie syndrome | 1 | Mar 13, 2018 |
Glaucoma 3, primary congenital, A | 1 | Jul 17, 2020 |
Glomerulopathy with fibronectin deposits 2 | 1 | Mar 13, 2018 |
Glomuvenous malformations | 1 | Mar 13, 2018 |
Glucose 6 phosphate dehydrogenase deficiency | 1 | Mar 13, 2018 |
Glycogen phosphorylase kinase deficiency | 1 | Apr 20, 2020 |
Glycogen storage disease 0, muscle | 2 | Apr 20, 2020 |
Glycogen storage disease due to muscle beta-enolase deficiency | 1 | Aug 22, 2017 |
Glycogen storage disease type III | 1 | Aug 22, 2017 |
Glycogen storage disease type X | 1 | Aug 22, 2017 |
Glycogen storage disease, type II | 1 | Apr 20, 2020 |
Glycogen storage disease, type IV | 2 | Mar 13, 2018 |
Glycogen storage disease, type V | 1 | Aug 22, 2017 |
Glycogen storage disease, type VII | 1 | Mar 13, 2018 |
Gnathodiaphyseal dysplasia | 3 | Mar 13, 2018 |
Growth delay due to insulin-like growth factor I resistance | 1 | Apr 20, 2020 |
Guillain-Barre syndrome, familial | 1 | Jan 30, 2019 |
HIVEP2-Related Disorder | 1 | Aug 22, 2017 |
HSD17B10-Related Disorder | 1 | Aug 22, 2017 |
HSPB1-Related Disorder | 1 | Aug 22, 2017 |
HUWE1-Related Disorder | 1 | Mar 13, 2018 |
Harel-Yoon syndrome | 1 | Apr 20, 2020 |
Hb SS disease | 1 | Mar 13, 2018 |
Hearing loss | 3 | Aug 22, 2017 |
Helsmoortel-Van der Aa Syndrome | 1 | Apr 20, 2020 |
Hemiplegia-hemiconvulsion-epilepsy syndrome | 1 | Jan 30, 2019 |
Hepatic veno-occlusive disease-immunodeficiency syndrome | 1 | Mar 13, 2018 |
Hereditary Paraganglioma-Pheochromocytoma Syndromes | 1 | Aug 22, 2017 |
Hereditary breast and ovarian cancer syndrome | 4 | Mar 13, 2018 |
Hereditary cancer | 4 | Aug 22, 2017 |
Hereditary cancer-predisposing syndrome | 1 | Apr 20, 2020 |
Hereditary diffuse leukoencephalopathy with spheroids | 1 | Apr 20, 2020 |
Hereditary factor XI deficiency disease | 1 | Apr 20, 2020 |
Hereditary fructosuria | 1 | Mar 13, 2018 |
Hereditary insensitivity to pain with anhidrosis | 1 | Aug 22, 2017 |
Hereditary leiomyomatosis and renal cell cancer | 2 | Apr 20, 2020 |
Hereditary liability to pressure palsies | 1 | Jan 30, 2019 |
Hereditary motor and sensory neuropathy, Okinawa type | 1 | Jan 30, 2019 |
Hereditary nonpolyposis colon cancer | 1 | Apr 20, 2020 |
Hereditary nonpolyposis colorectal cancer type 5 | 1 | Jan 30, 2019 |
Hereditary nonpolyposis colorectal cancer type 8 | 1 | Apr 20, 2020 |
Hereditary nonpolyposis colorectal neoplasms | 1 | Aug 22, 2017 |
Hereditary pancreatitis | 1 | Aug 22, 2017 |
Hereditary sensory and autonomic neuropathy type IC | 1 | Aug 22, 2017 |
Hereditary sensory and autonomic neuropathy type IIC | 2 | Apr 20, 2020 |
Hereditary spastic paraplegia 7 | 3 | Mar 13, 2018 |
Hereditary spastic paraplegia 9A | 1 | Aug 22, 2017 |
Heterotopia, periventricular, autosomal recessive | 1 | Aug 22, 2017 |
Hirschsprung disease 2 | 1 | Mar 13, 2018 |
Hutchinson-Gilford syndrome | 2 | Jan 30, 2019 |
Hyperammonemia, type III | 1 | Aug 22, 2017 |
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive | 3 | Apr 20, 2020 |
Hyperphosphatasia with mental retardation syndrome 2 | 1 | Mar 13, 2018 |
Hypertrophic cardiomyopathy | 4 | Jan 30, 2019 |
Hypertrophic cardiomyopathy 25 | 1 | Jan 30, 2019 |
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis | 2 | Mar 13, 2018 |
Hypobetalipoproteinemia, familial, 1 | 1 | Mar 13, 2018 |
Hypochondroplasia | 1 | Mar 13, 2018 |
Hypogonadism with anosmia | 1 | Apr 20, 2020 |
Hypomyelinating leukodystrophy 3 | 1 | Mar 13, 2018 |
Hypomyelination, global cerebral | 1 | Mar 13, 2018 |
Hypoparathyroidism-deafness-renal disease syndrome | 1 | Mar 13, 2018 |
Hypophosphatasia | 1 | Mar 13, 2018 |
Hypophosphatemia | 1 | Jan 30, 2019 |
Hypotonia, ataxia, and delayed development syndrome | 1 | Jan 30, 2019 |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 1 | Apr 20, 2020 |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 1 | Apr 20, 2020 |
Hypotrichosis 6 | 1 | Mar 13, 2018 |
IGF1R-Related Disorder | 1 | Jan 30, 2019 |
IL1RAPL1-Related Disorder | 1 | Aug 22, 2017 |
ISPD-Related Disorder | 1 | Apr 20, 2020 |
Ichthyosis prematurity syndrome | 1 | Jan 30, 2019 |
Ichthyosis vulgaris | 2 | Jan 30, 2019 |
Imerslund-Gräsbeck syndrome | 1 | Aug 22, 2017 |
Immunodeficiency 31C | 1 | Jan 30, 2019 |
Immunodeficiency 31a | 1 | Jan 30, 2019 |
Immunodeficiency 36 | 1 | Mar 13, 2018 |
Infantile convulsions and choreoathetosis | 1 | Apr 20, 2020 |
Infantile cortical hyperostosis | 1 | Apr 20, 2020 |
Infantile encephalopathy | 2 | Aug 22, 2017 |
Intellectual developmental disorder and retinitis pigmentosa; IDDRP | 2 | Apr 20, 2020 |
Intellectual developmental disorder with cardiac arrhythmia | 2 | Mar 13, 2018 |
Intellectual disability | 6 | Apr 20, 2020 |
Intellectual disability, autosomal dominant 9 | 2 | Apr 20, 2020 |
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome | 1 | Jan 30, 2019 |
Intellectual disability-developmental delay-contractures syndrome | 1 | Mar 13, 2018 |
Irido-corneo-trabecular dysgenesis | 1 | Jul 17, 2020 |
Juvenile myoclonic epilepsy | 2 | Mar 13, 2018 |
KANK1- Related Disorder | 1 | Mar 13, 2018 |
KBG syndrome | 2 | Aug 22, 2017 |
KCNQ2-Related Disorders | 1 | Apr 20, 2020 |
Kabuki syndrome 1 | 3 | Apr 20, 2020 |
Kenny-Caffey syndrome type 2 | 1 | Apr 20, 2020 |
Keppen-Lubinsky syndrome | 1 | Mar 13, 2018 |
Kufor-Rakeb syndrome | 2 | Mar 13, 2018 |
LOX-Related Disorder | 1 | Jan 30, 2019 |
LRP4-Related Disorder | 1 | Apr 20, 2020 |
LTBP2-related Disorder | 1 | Aug 22, 2017 |
LZTR1-Related Disorder | 1 | Aug 22, 2017 |
Laminin alpha 2-related dystrophy | 3 | Apr 20, 2020 |
Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia | 2 | Mar 13, 2018 |
Leber's optic atrophy | 3 | Apr 20, 2020 |
Left ventricular noncompaction | 1 | Apr 20, 2020 |
Leigh syndrome | 4 | Mar 13, 2018 |
Lennox-Gastaut syndrome | 1 | Apr 20, 2020 |
Lethal multiple pterygium syndrome | 1 | Aug 22, 2017 |
Leukodystrophy, hypomyelinating, 6 | 1 | Apr 20, 2020 |
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | 3 | Mar 13, 2018 |
Leukoencephalopathy with dystonia and motor neuropathy | 1 | Mar 13, 2018 |
Leukoencephalopathy with vanishing white matter | 2 | Jan 30, 2019 |
Levy-Hollister syndrome | 1 | Mar 13, 2018 |
Lewy body dementia | 1 | Jan 30, 2019 |
Limb-girdle muscular dystrophy, type 1B | 1 | Jan 30, 2019 |
Limb-girdle muscular dystrophy, type 2A | 2 | Apr 20, 2020 |
Limb-girdle muscular dystrophy, type 2J | 4 | Mar 13, 2018 |
Limb-girdle muscular dystrophy, type 2L | 3 | Mar 13, 2018 |
Limb-girdle muscular dystrophy, type 2Q | 2 | Aug 22, 2017 |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 | 2 | Jan 30, 2019 |
Lissencephaly | 1 | Apr 20, 2020 |
Lissencephaly 3 | 1 | Mar 13, 2018 |
Lissencephaly due to LIS1 mutation | 1 | Mar 13, 2018 |
Loeys-Dietz syndrome | 2 | Aug 22, 2017 |
Loeys-Dietz syndrome 3 | 1 | Jan 30, 2019 |
Long QT syndrome | 3 | Aug 22, 2017 |
Long QT syndrome 1 | 1 | Aug 22, 2017 |
Long QT syndrome 2 | 2 | Apr 20, 2020 |
Lynch syndrome | 7 | Apr 20, 2020 |
Lynch syndrome II | 1 | Mar 13, 2018 |
MARS-Related Disorder | 2 | Mar 13, 2018 |
MASS syndrome | 1 | Jan 30, 2019 |
MATR3-Related Disorder | 1 | Aug 22, 2017 |
MECP2-Related Disorder | 1 | Apr 20, 2020 |
MED13L-Related Disorder | 1 | Apr 20, 2020 |
MEF2C-Related Disorder | 1 | Aug 22, 2017 |
MEIS2-related disorder | 1 | Aug 22, 2017 |
MPDU1-CDG | 1 | Jan 30, 2019 |
MPI-CDG | 1 | Mar 13, 2018 |
MSL3-Related Disorder | 1 | Apr 20, 2020 |
MYH-associated polyposis | 1 | Mar 13, 2018 |
MYH2-related myopathy | 1 | Mar 13, 2018 |
MYH7-Related Disorders | 1 | Apr 20, 2020 |
MYH7-related late-onset scapuloperoneal muscular dystrophy | 1 | Apr 20, 2020 |
MYH9-related disorder | 1 | Jan 30, 2019 |
MYO7A-related disorder | 1 | Jan 30, 2019 |
MYOM1-related disorder | 1 | Aug 22, 2017 |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 2 | Aug 22, 2017 |
Majeed syndrome | 1 | Mar 13, 2018 |
Malignant hyperthermia susceptibility | 1 | Aug 22, 2017 |
Malignant hyperthermia, susceptibility to, 1 | 4 | Apr 20, 2020 |
Malignant tumor of breast | 1 | Jan 30, 2019 |
Mannose-binding protein deficiency | 1 | Aug 22, 2017 |
Maple syrup urine disease type 1B | 1 | Apr 20, 2020 |
Marfan syndrome | 5 | Apr 20, 2020 |
Marshall syndrome | 1 | Apr 20, 2020 |
Maturity-onset diabetes of the young, type 2 | 1 | Apr 20, 2020 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency | 1 | Mar 13, 2018 |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 1 | Jan 30, 2019 |
Meier-Gorlin syndrome 1 | 1 | Aug 22, 2017 |
Meier-Gorlin syndrome 4 | 1 | Aug 22, 2017 |
Melnick-Needles syndrome | 1 | Aug 22, 2017 |
Mental retardation, X-linked 1 | 1 | Mar 13, 2018 |
Mental retardation, X-linked 98 | 1 | Jan 30, 2019 |
Mental retardation, X-linked 99 | 1 | Apr 20, 2020 |
Mental retardation, autosomal dominant 1 | 1 | Nov 17, 2017 |
Mental retardation, autosomal dominant 13 | 1 | Apr 20, 2020 |
Mental retardation, autosomal dominant 4 | 1 | Mar 13, 2018 |
Mental retardation, autosomal dominant 57 | 1 | Apr 20, 2020 |
Mental retardation, autosomal dominant 6 | 1 | Apr 21, 2020 |
Mental retardation, autosomal recessive 1 | 1 | Aug 22, 2017 |
Mental retardation, autosomal recessive 13 | 1 | Mar 13, 2018 |
Mental retardation, autosomal recessive 18 | 1 | Aug 22, 2017 |
Mental retardation, autosomal recessive 5 | 1 | Apr 20, 2020 |
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations | 3 | Jan 30, 2019 |
Mental retardation, syndromic, Claes-Jensen type, X-linked | 2 | Apr 20, 2020 |
Mercaptolactate-cysteine disulfiduria | 1 | Jan 30, 2019 |
Merosin deficient congenital muscular dystrophy | 6 | Jan 30, 2019 |
Metachromatic leukodystrophy | 2 | Apr 20, 2020 |
Methylmalonic aciduria and homocystinuria type cblF | 2 | Jan 30, 2019 |
Microcephalic osteodysplastic primordial dwarfism type II | 1 | Mar 13, 2018 |
Microcephaly, normal intelligence and immunodeficiency | 1 | Apr 20, 2020 |
Minicore myopathy with external ophthalmoplegia | 3 | Apr 20, 2020 |
Mitochondrial DNA depletion syndrome 11 | 1 | Mar 13, 2018 |
Mitochondrial DNA depletion syndrome 4B, MNGIE type | 2 | Mar 13, 2018 |
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) | 1 | Apr 20, 2020 |
Mitochondrial DNA depletion syndrome, hepatocerebral form | 2 | Apr 20, 2020 |
Mitochondrial DNA-Associated Leigh Syndrome and NARP | 1 | Mar 13, 2018 |
Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 1 | Jan 30, 2019 |
Mitochondrial DNA-related disorder | 3 | Aug 22, 2017 |
Mitochondrial complex 1 deficiency, nuclear type 5 | 1 | Apr 20, 2020 |
Mitochondrial complex I deficiency | 4 | Mar 13, 2018 |
Mitochondrial complex IV deficiency | 3 | Aug 22, 2017 |
Mitochondrial-DNA disorder | 1 | Mar 13, 2018 |
Miyoshi muscular dystrophy 1 | 1 | Jan 30, 2019 |
Miyoshi muscular dystrophy 3 | 3 | Mar 13, 2018 |
Mucopolysaccharidosis type 1 | 1 | Apr 20, 2020 |
Mucopolysaccharidosis, MPS-IV-B | 1 | Mar 13, 2018 |
Multiminicore Disease | 1 | Aug 22, 2017 |
Multiple endocrine neoplasia, type 1 | 2 | Apr 20, 2020 |
Multiple endocrine neoplasia, type 2a | 1 | Aug 22, 2017 |
Multiple exostoses type 2 | 1 | Apr 20, 2020 |
Multiple fibrofolliculomas | 2 | Aug 22, 2017 |
Muscle AMP deaminase deficiency | 1 | Aug 22, 2017 |
Muscular dystrophy | 2 | Aug 22, 2017 |
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency | 2 | Apr 20, 2020 |
Myasthenic syndrome, congenital, 8 | 1 | Apr 20, 2020 |
Mycobacterial and viral infections, susceptibility to, autosomal recessive | 1 | Jan 30, 2019 |
Mycobacterium tuberculosis, susceptibility to | 1 | Mar 13, 2018 |
Myeloperoxidase deficiency | 2 | Aug 22, 2017 |
Myoclonic-atonic epilepsy | 1 | Aug 22, 2017 |
Myofibrillar myopathy, filamin C-related | 2 | Mar 13, 2018 |
Myopathy with postural muscle atrophy, X-linked | 1 | Apr 20, 2020 |
Myopathy, centronuclear, 2 | 1 | Mar 13, 2018 |
Myopathy, distal, 4 | 1 | Mar 13, 2018 |
Myopathy, distal, with anterior tibial onset | 1 | Jan 30, 2019 |
Myopathy, early-onset, with fatal cardiomyopathy | 4 | Apr 20, 2020 |
Myopathy, isolated mitochondrial, autosomal dominant | 1 | Mar 13, 2018 |
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay | 1 | Mar 13, 2018 |
Myopathy, myofibrillar, 9, with early respiratory failure | 7 | Apr 20, 2020 |
Myosin storage myopathy | 1 | Apr 20, 2020 |
NARP syndrome | 1 | Mar 13, 2018 |
NFIA-related disorders | 1 | Jan 30, 2019 |
NOTCH1-Related Disorders | 1 | Mar 13, 2018 |
NRXN-Related Disorder | 1 | Aug 22, 2017 |
Nemaline myopathy | 1 | Aug 22, 2017 |
Nemaline myopathy 2 | 1 | Apr 20, 2020 |
Nephrogenic diabetes insipidus, X-linked | 1 | Aug 22, 2017 |
Nephrogenic syndrome of inappropriate antidiuresis | 1 | Aug 22, 2017 |
Netherton syndrome | 1 | Mar 13, 2018 |
Neurodegeneration with brain iron accumulation | 1 | Jan 30, 2019 |
Neurodegeneration with brain iron accumulation 4 | 1 | Aug 22, 2017 |
Neurodegeneration with brain iron accumulation 5 | 1 | Jan 30, 2019 |
Neurodegeneration with brain iron accumulation 6 | 1 | Aug 22, 2017 |
Neurodegeneration with brain iron accumulation 8 | 1 | Jan 30, 2019 |
Neurodevelopmental and congenital anomalies | 1 | Jan 30, 2019 |
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | 1 | Apr 20, 2020 |
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | 1 | Apr 20, 2020 |
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | 1 | Apr 20, 2020 |
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 1 | Apr 20, 2020 |
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | 1 | Apr 20, 2020 |
Neurofibromatosis, type 1 | 4 | Apr 20, 2020 |
Neuronal ceroid lipofuscinosis 1 | 1 | Jan 30, 2019 |
Neuronal ceroid lipofuscinosis 5 | 1 | Apr 20, 2020 |
Neuronal ceroid lipofuscinosis 8 | 1 | Aug 22, 2017 |
Neuropathy, hereditary sensory and autonomic, type VII | 2 | Apr 20, 2020 |
Nicolaides-Baraitser syndrome | 1 | Apr 20, 2020 |
Niemann-Pick disease type C1 | 1 | Aug 22, 2017 |
Niemann-Pick disease, type C2 | 1 | Mar 13, 2018 |
Non-syndromic intellectual disability | 1 | Mar 13, 2018 |
Nonsyndromic Hearing Loss, Recessive | 1 | Aug 22, 2017 |
Noonan syndrome | 1 | Mar 13, 2018 |
Noonan syndrome 10 | 1 | Apr 20, 2020 |
Noonan syndrome 6 | 1 | Mar 13, 2018 |
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | 1 | Apr 20, 2020 |
Norman-Roberts syndrome | 1 | Mar 13, 2018 |
Optic atrophy | 1 | Mar 13, 2018 |
Optic atrophy 3 | 1 | Mar 13, 2018 |
Osteocraniostenosis | 1 | Apr 20, 2020 |
Osteogenesis imperfecta | 2 | Jan 30, 2019 |
Osteogenesis imperfecta type 7 | 1 | Apr 20, 2020 |
Osteogenesis imperfecta type 8 | 1 | Apr 20, 2020 |
Osteogenesis imperfecta type I | 3 | Apr 20, 2020 |
Osteogenesis imperfecta, recessive perinatal lethal | 1 | Mar 13, 2018 |
Oto-palato-digital syndrome, type I | 1 | Aug 22, 2017 |
Oto-palato-digital syndrome, type II | 1 | Aug 22, 2017 |
Otospondylomegaepiphyseal dysplasia, autosomal dominant | 3 | Apr 20, 2020 |
Otospondylomegaepiphyseal dysplasia, autosomal recessive | 3 | Apr 20, 2020 |
PHIP-Related Disorder | 1 | Jan 30, 2019 |
PHIP-Related disorders | 1 | Jan 30, 2019 |
PIGT-related disorder | 3 | Apr 21, 2020 |
PINK1-Related Parkinsonism | 1 | Aug 22, 2017 |
PLOD3-Related Disorder | 1 | Apr 20, 2020 |
POLG- Related Disorder | 1 | Mar 13, 2018 |
POLG- Related Disorders | 1 | Mar 13, 2018 |
POLG-related disorders | 4 | Jan 30, 2019 |
POLR3B-Related Disorder | 1 | Apr 20, 2020 |
PPP2R1A-related disorder | 1 | Jan 30, 2019 |
PPP2R2B-Related Disorder | 1 | Apr 20, 2020 |
Palmoplantar keratoderma-esophageal carcinoma syndrome | 1 | Apr 20, 2020 |
Pancreatic agenesis and congenital heart disease | 1 | Apr 20, 2020 |
Pancreatitis | 1 | Jan 30, 2019 |
Paragangliomas 4 | 1 | Mar 13, 2018 |
Parkinson disease, late-onset | 1 | Jan 30, 2019 |
Partial androgen insensitivity syndrome | 1 | Apr 20, 2020 |
Periodic fever syndrome | 1 | Aug 22, 2017 |
Peripheral neuropathy, myopathy, hoarseness, and hearing loss | 1 | Apr 20, 2020 |
Periventricular nodular heterotopia 1 | 3 | Jan 30, 2019 |
Permanent neonatal diabetes mellitus | 1 | Apr 20, 2020 |
Peroxisome biogenesis disorder 1A (Zellweger) | 1 | Aug 22, 2017 |
Peroxisome biogenesis disorder 1B | 1 | Aug 22, 2017 |
Peroxisome biogenesis disorder 8A | 1 | Jan 30, 2019 |
Peroxisome biogenesis disorder 8B | 1 | Jan 30, 2019 |
Peroxisome biogenesis disorders, Zellweger syndrome spectrum | 1 | Mar 13, 2018 |
Perrault syndrome 1 | 1 | Aug 22, 2017 |
Peutz-Jeghers syndrome | 1 | Aug 22, 2017 |
Phenylketonuria | 2 | Mar 13, 2018 |
Pheochromocytoma | 1 | Mar 13, 2018 |
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial | 1 | Aug 22, 2017 |
Pitt-Hopkins-like syndrome 1 | 2 | Apr 20, 2020 |
Pituitary hormone deficiency, combined, 1 | 1 | Mar 13, 2018 |
Plasma fibronectin deficiency | 1 | Mar 13, 2018 |
Polycystic kidney disease 2 | 1 | Jan 30, 2019 |
Polycystic kidney disease, adult type | 2 | Jan 30, 2019 |
Polycythemia vera | 1 | Mar 13, 2018 |
Polyglandular autoimmune syndrome, type 1 | 1 | Apr 20, 2020 |
Polymerase proofreading associated polyposis | 1 | Apr 20, 2020 |
Polymicrogyria | 1 | Apr 20, 2020 |
Pontocerebellar hypoplasia type 1A | 1 | Mar 13, 2018 |
Pontocerebellar hypoplasia, type 1c | 1 | Mar 13, 2018 |
Poretti-Boltshauser syndrome | 2 | Jan 30, 2019 |
Primary autosomal recessive microcephaly 10 | 2 | Mar 13, 2018 |
Primary autosomal recessive microcephaly 3 | 2 | Mar 13, 2018 |
Primary autosomal recessive microcephaly 9 | 1 | Mar 13, 2018 |
Primary dilated cardiomyopathy | 4 | Apr 20, 2020 |
Primary hyperoxaluria, type II | 1 | Mar 13, 2018 |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 2 | Mar 13, 2018 |
Progressive sclerosing poliodystrophy | 2 | Mar 13, 2018 |
Propionic acidemia | 1 | Mar 13, 2018 |
Pseudo von Willebrand disease | 1 | Mar 13, 2018 |
Pseudoxanthoma elasticum | 2 | Aug 22, 2017 |
Pustular psoriasis, generalized | 1 | Aug 22, 2017 |
Pyruvate carboxylase deficiency | 1 | Aug 22, 2017 |
Pyruvate dehydrogenase E3-binding protein deficiency | 1 | Nov 17, 2017 |
Qualitative or quantitative defects of dysferlin | 1 | Aug 22, 2017 |
RPE65-Related Disorders | 2 | Apr 20, 2020 |
RTEL1-related Disorders | 1 | Mar 13, 2018 |
RYR1-Related Disorder | 3 | Aug 22, 2017 |
Radial aplasia-thrombocytopenia syndrome | 1 | Mar 13, 2018 |
Rasopathy | 2 | Aug 22, 2017 |
Refractory anemia with ringed sideroblasts (clinical) | 1 | Aug 22, 2017 |
Renal carnitine transport defect | 1 | Mar 13, 2018 |
Renal coloboma syndrome | 1 | Mar 13, 2018 |
Renal tubular acidosis, distal, with hemolytic anemia | 1 | Mar 13, 2018 |
Renier-Gabreels-Jasper syndrome | 1 | Apr 20, 2020 |
Retinitis pigmentosa | 2 | Apr 20, 2020 |
Retinitis pigmentosa 31 | 1 | Jan 30, 2019 |
Retinitis pigmentosa 40 | 2 | Jan 30, 2019 |
Rett syndrome | 1 | Apr 20, 2020 |
Rett syndrome, congenital variant | 1 | Apr 20, 2020 |
Rh-null, regulator type | 1 | Apr 20, 2020 |
Roussy-Lévy syndrome | 1 | Jan 30, 2019 |
Rubinstein-Taybi syndrome 1 | 1 | Aug 22, 2017 |
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | 2 | Apr 20, 2020 |
SATB2-Related Disorder | 1 | Mar 13, 2018 |
SCN10A-Related Disorder | 1 | Aug 22, 2017 |
SCN1B-Related Disorder | 1 | Mar 13, 2018 |
SCN2A-related disorder | 2 | Apr 20, 2020 |
SCN3A- Related Disorder | 1 | Aug 22, 2017 |
SCN4A-related disorder | 1 | Aug 22, 2017 |
SCN5A-related disorder | 2 | Jan 30, 2019 |
SCN8A-related disorder | 1 | Aug 22, 2017 |
SETBP1-Related Disorder | 1 | Aug 22, 2017 |
SHANK3-Related Disorder | 2 | Jan 30, 2019 |
SHORT syndrome | 1 | Mar 13, 2018 |
SLC6A1-Related Disorder | 2 | Jan 30, 2019 |
SLC6A2-related disorder | 1 | Aug 22, 2017 |
SMAD3-Related Disorder | 1 | Jan 30, 2019 |
SMS-Related Disorder | 1 | Aug 22, 2017 |
SOX2-Related Disorder | 1 | Apr 20, 2020 |
SQSTM1-related disorder | 1 | Aug 22, 2017 |
STAG1-Related Disorders | 1 | Mar 13, 2018 |
STAT1-Related Disorder | 1 | Aug 22, 2017 |
STRA6-Related Disorder | 1 | Aug 22, 2017 |
SUDDEN INFANT DEATH SYNDROME | 1 | Aug 22, 2017 |
Schaaf-Yang syndrome | 1 | Apr 20, 2020 |
Schizophrenia | 1 | Mar 13, 2018 |
Schuurs-hoeijmakers syndrome | 1 | Jan 30, 2019 |
Seckel syndrome 5 | 1 | Mar 13, 2018 |
Seizure disorder | 1 | Nov 17, 2017 |
Seizures | 1 | Apr 20, 2020 |
Seizures, benign familial infantile, 2 | 1 | Apr 20, 2020 |
Seizures, benign familial infantile, 3 | 2 | Apr 20, 2020 |
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | 2 | Mar 13, 2018 |
Severe combined immunodeficiency disease | 1 | Aug 22, 2017 |
Severe myoclonic epilepsy in infancy | 2 | Nov 18, 2020 |
Short stature, brachydactyly, intellectual developmental disability, and seizures | 2 | Mar 13, 2018 |
Short stature, developmental delay, and congenital heart defects | 1 | Mar 13, 2018 |
Short stature-pituitary and cerebellar defects-small sella turcica syndrome | 1 | Aug 22, 2017 |
Sick sinus syndrome | 1 | Aug 22, 2017 |
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay | 1 | Nov 17, 2017 |
Singleton-Merten syndrome 1 | 1 | Apr 20, 2020 |
Sjögren-Larsson syndrome | 1 | Jan 30, 2019 |
Smith-Kingsmore syndrome | 2 | Apr 20, 2020 |
Smith-Lemli-Opitz syndrome | 2 | Apr 20, 2020 |
Smith-Magenis syndrome | 1 | Apr 20, 2020 |
Spastic paraplegia 11, autosomal recessive | 2 | Apr 20, 2020 |
Spastic paraplegia 30, autosomal recessive | 2 | Apr 20, 2020 |
Spastic paraplegia 4, autosomal dominant | 4 | Mar 13, 2018 |
Spastic paraplegia 43, autosomal recessive | 1 | Aug 22, 2017 |
Spastic paraplegia 44, autosomal recessive | 1 | Aug 22, 2017 |
Spastic paraplegia 46, autosomal recessive | 1 | Aug 22, 2017 |
Spastic paraplegia 49, autosomal recessive | 3 | Apr 20, 2020 |
Spastic paraplegia 57, autosomal recessive | 1 | Jan 30, 2019 |
Spastic paraplegia 9b, autosomal recessive | 1 | Aug 22, 2017 |
Spastic paraplegia, intellectual disability, nystagmus, and obesity | 1 | Aug 22, 2017 |
Spherocytosis type 4 | 1 | Mar 13, 2018 |
Spinal muscular atrophy | 1 | Aug 22, 2017 |
Spinal muscular atrophy, jokela type | 1 | Mar 13, 2018 |
Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant | 1 | Apr 20, 2020 |
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | 1 | Mar 13, 2018 |
Spinocerebellar ataxia 42 | 1 | Apr 20, 2020 |
Spinocerebellar ataxia 47 | 1 | Apr 20, 2020 |
Spinocerebellar ataxia type 15/16 | 1 | Mar 13, 2018 |
Spinocerebellar ataxia type 26 | 1 | Aug 22, 2017 |
Spinocerebellar ataxia type 29 | 1 | Mar 13, 2018 |
Spinocerebellar ataxia type 5 | 2 | Mar 13, 2018 |
Spinocerebellar ataxia type 6 | 1 | Jan 30, 2019 |
Spinocerebellar ataxia, autosomal recessive 12 | 1 | Jan 30, 2019 |
Spinocerebellar ataxia, autosomal recessive 14 | 2 | Mar 13, 2018 |
Spinocerebellar ataxia, autosomal recessive 8 | 2 | Apr 20, 2020 |
Spondylometaphyseal dysplasia, megarbane-dagher-melki type | 1 | Mar 13, 2018 |
Stankiewicz-Isidor syndrome | 1 | Apr 20, 2020 |
Stargardt disease | 5 | Apr 20, 2020 |
Stargardt disease 1 | 2 | Aug 22, 2017 |
Stickler syndrome type 2 | 1 | Apr 20, 2020 |
Stickler syndrome, type 5 | 1 | Aug 22, 2017 |
Subacute neuronopathic Gaucher's disease | 1 | Jan 30, 2019 |
Succinate-semialdehyde dehydrogenase deficiency | 2 | Mar 13, 2018 |
Supravalvar aortic stenosis | 1 | Mar 13, 2018 |
Susceptibility to severe cutaneous adverse reaction | 1 | Aug 22, 2017 |
Syndromic X-linked intellectual disability Siderius type | 1 | Aug 22, 2017 |
Syndromic X-linked intellectual disability Turner type | 1 | Apr 20, 2020 |
TANGO2-Related disorder | 1 | Aug 22, 2017 |
TBL1XR1-Related Disorder | 2 | Apr 20, 2020 |
TERT-associated disorder | 1 | Aug 22, 2017 |
TLK2-Related Disorder | 1 | Jan 30, 2019 |
TRAF7-Related Disorder | 1 | Apr 20, 2020 |
TSC2-Related Disorder | 1 | Aug 22, 2017 |
TTN-Related Disorders | 4 | Apr 20, 2020 |
TTN-Related disorder | 1 | Aug 22, 2017 |
Tatton-Brown-rahman syndrome | 3 | Apr 20, 2020 |
Thiamine-responsive megaloblastic anemia | 1 | Aug 22, 2017 |
Thoracic aortic dissection | 1 | Aug 22, 2017 |
Thrombocythemia 3 | 1 | Mar 13, 2018 |
Tibial muscular dystrophy | 6 | Mar 13, 2018 |
Transposition of the great arteries, dextro-looped 1 | 1 | Aug 22, 2017 |
Treacher Collins syndrome 1 | 1 | Mar 13, 2018 |
Tuberous sclerosis 1 | 1 | Jan 30, 2019 |
Tuberous sclerosis syndrome | 1 | Aug 22, 2017 |
Turcot syndrome | 3 | Apr 20, 2020 |
Type 2 diabetes mellitus | 2 | Apr 20, 2020 |
Tyrosinase-positive oculocutaneous albinism | 2 | Mar 13, 2018 |
UBTF-Related Disorder | 1 | Jan 30, 2019 |
UNC80-Related Disorder | 2 | Aug 22, 2017 |
USP9X related disorders | 1 | Aug 22, 2017 |
Ullrich congenital muscular dystrophy 1 | 3 | Apr 20, 2020 |
Ullrich congenital muscular dystrophy 2 | 1 | Apr 20, 2020 |
Undetermined early-onset epileptic encephalopathy | 1 | Apr 20, 2020 |
Usher syndrome type 1 | 2 | Apr 20, 2020 |
Usher syndrome type 1D | 2 | Jan 30, 2019 |
Verheij syndrome | 1 | Mar 13, 2018 |
Visceral heterotaxy 5, autosomal | 1 | Mar 13, 2018 |
Vitelliform macular dystrophy 1 | 1 | Aug 22, 2017 |
Waardenburg syndrome type 4A | 1 | Mar 13, 2018 |
Warsaw breakage syndrome | 2 | Mar 13, 2018 |
Weill-Marchesani syndrome | 1 | Jan 30, 2019 |
Werner syndrome | 1 | Apr 20, 2020 |
Wilson disease | 6 | Apr 20, 2020 |
Wolfram syndrome 1 | 3 | Mar 13, 2018 |
Wolfram-like syndrome, autosomal dominant | 3 | Mar 13, 2018 |
X-linked intellectual disability syndrome | 1 | Aug 22, 2017 |
X-linked intellectual disability-hypotonic face syndrome | 1 | Aug 22, 2017 |
Xia-Gibbs syndrome | 2 | Jan 30, 2019 |
alpha Thalassemia | 1 | Apr 20, 2020 |
beta Thalassemia | 1 | Mar 13, 2018 |
mtDNA-related disorders | 1 | Aug 22, 2017 |
not provided | 476 | Apr 20, 2020 |