| 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 |
