| 3-Methylglutaconic aciduria type 2 | 1 | Jan 13, 2021 |
| 3-methylcrotonyl CoA carboxylase 2 deficiency | 1 | Jan 13, 2021 |
| 3-methylglutaconic aciduria type V | 1 | Jan 13, 2021 |
| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 2 | Sep 26, 2019 |
| 46,XY sex reversal, type 3 | 1 | Sep 26, 2019 |
| ABCC8-related disorder | 1 | Sep 4, 2018 |
| ACTH resistance | 1 | Jan 13, 2021 |
| Achondroplasia | 1 | Jan 13, 2021 |
| Achromatopsia 2 | 3 | Sep 26, 2019 |
| Achromatopsia 7 | 2 | Sep 26, 2019 |
| Acrocapitofemoral dysplasia | 2 | Sep 26, 2019 |
| Acrofacial dysostosis, Cincinnati type | 1 | Sep 4, 2018 |
| Adams-Oliver syndrome 6 | 1 | Sep 26, 2019 |
| Adenosine kinase deficiency | 1 | Sep 26, 2019 |
| Adrenocorticotropic hormone deficiency | 2 | Feb 12, 2020 |
| Adrenoleukodystrophy | 2 | Jan 13, 2021 |
| Aicardi Goutieres syndrome 2 | 1 | Sep 26, 2019 |
| Aicardi Goutieres syndrome 4 | 1 | Sep 26, 2019 |
| Aicardi Goutieres syndrome 5 | 3 | Sep 26, 2019 |
| Alazami syndrome | 2 | Sep 26, 2019 |
| Alexander Disease | 1 | Jan 13, 2021 |
| Alkuraya-Kucinskas syndrome | 1 | Sep 26, 2019 |
| Allan-Herndon-Dudley syndrome | 1 | Sep 26, 2019 |
| Alstrom syndrome | 1 | Sep 4, 2018 |
| Alternating hemiplegia of childhood 2 | 1 | Feb 12, 2020 |
| Amelogenesis imperfecta, hypocalcification type | 1 | Feb 12, 2020 |
| Aminoacylase 1 deficiency | 1 | Sep 26, 2019 |
| Amyotrophic lateral sclerosis, susceptibility to, 24 | 1 | Jan 13, 2021 |
| Anemia, hypochromic microcytic, with iron overload 1 | 1 | Sep 26, 2019 |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 4 | Sep 26, 2019 |
| Angelman syndrome | 2 | Jan 13, 2021 |
| Aortic aneurysm, familial thoracic 4 | 2 | Feb 12, 2020 |
| Apparent mineralocorticoid excess | 2 | Sep 26, 2019 |
| Arboleda-Tham syndrome | 1 | Feb 12, 2020 |
| Argininosuccinate lyase deficiency | 1 | Sep 26, 2019 |
| Arrhythmogenic right ventricular cardiomyopathy, type 11 | 1 | Sep 4, 2018 |
| Arterial calcification, generalized, of infancy, 1 | 1 | Sep 26, 2019 |
| Arterial tortuosity syndrome | 1 | Sep 26, 2019 |
| Arthrogryposis multiplex congenita, neurogenic, with myelin defect | 1 | Sep 26, 2019 |
| Arthrogryposis, distal, type 2B3 | 1 | Feb 12, 2020 |
| Arthrogryposis, distal, with impaired proprioception and touch | 2 | Sep 26, 2019 |
| Asparagine synthetase deficiency | 3 | Jan 13, 2021 |
| Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | 1 | Jan 13, 2021 |
| Ataxia, spastic, 2, autosomal recessive | 1 | Sep 26, 2019 |
| Ataxia-telangiectasia syndrome | 1 | Sep 26, 2019 |
| Ataxia-telangiectasia-like disorder 1 | 2 | Sep 26, 2019 |
| Autism 17 | 1 | Feb 12, 2020 |
| Autism, susceptibility to, X-linked 6 | 1 | Feb 12, 2020 |
| Autosomal dominant KCNQ1-related disease | 2 | Sep 26, 2019 |
| Autosomal dominant MYH7-related disorder | 1 | Sep 26, 2019 |
| Autosomal dominant SCN1A-related disorder | 1 | Sep 26, 2019 |
| Autosomal dominant nonsyndromic deafness 22 | 1 | Sep 26, 2019 |
| Autosomal recessive AGK-related phenotype | 1 | Sep 26, 2019 |
| Autosomal recessive congenital ichthyosis 2 | 2 | Jan 13, 2021 |
| Autosomal recessive congenital ichthyosis 5 | 2 | Feb 12, 2020 |
| Autosomal recessive congenital ichthyosis 9 | 1 | Sep 26, 2019 |
| Autosomal recessive cutis laxa type 1B | 1 | Sep 26, 2019 |
| Autosomal recessive cutis laxa type 2B | 1 | Sep 26, 2019 |
| Autosomal recessive multiple pterygium syndrome | 1 | Sep 26, 2019 |
| Autosomal recessive osteopetrosis 1 | 1 | Sep 26, 2019 |
| Autosomal recessive polycystic kidney disease | 3 | Sep 26, 2019 |
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 | 1 | Feb 12, 2020 |
| Bainbridge-Ropers syndrome | 1 | Sep 26, 2019 |
| Baraitser-Winter syndrome 1 | 1 | Feb 12, 2020 |
| Bardet-Biedl syndrome 16 | 1 | Sep 26, 2019 |
| Bardet-Biedl syndrome 17 | 1 | Feb 12, 2020 |
| Bardet-Biedl syndrome 4 | 1 | Sep 26, 2019 |
| Bardet-Biedl syndrome 6 | 1 | Sep 26, 2019 |
| Bardet-Biedl syndrome 9 | 2 | Jan 13, 2021 |
| Bare lymphocyte syndrome 2 | 6 | Jan 13, 2021 |
| Beaulieu-Boycott-Innes syndrome | 1 | Feb 12, 2020 |
| Bernard Soulier syndrome | 1 | Jan 13, 2021 |
| Beta-hydroxyisobutyryl-CoA deacylase deficiency | 1 | Sep 26, 2019 |
| Biotin-responsive basal ganglia disease | 1 | Sep 26, 2019 |
| Biotinidase deficiency | 2 | Jan 13, 2021 |
| Blepharocheilodontic syndrome 2 | 1 | Sep 26, 2019 |
| Blepharophimosis - intellectual disability syndrome, SBBYS type | 1 | Sep 4, 2018 |
| Blepharophimosis, ptosis, and epicanthus inversus | 1 | Sep 26, 2019 |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | 1 | Sep 26, 2019 |
| Bradyopsia | 1 | Jan 13, 2021 |
| Brain small vessel disease 1 with or without ocular anomalies | 2 | Jan 13, 2021 |
| Breast-ovarian cancer, familial 1 | 1 | Jan 13, 2021 |
| C1q deficiency | 2 | Feb 12, 2020 |
| CHARGE association | 2 | Sep 26, 2019 |
| CNTNAP1-related disease | 1 | Sep 26, 2019 |
| CODAS syndrome | 1 | Sep 26, 2019 |
| COG6-related disorder | 1 | Sep 26, 2019 |
| COG7 congenital disorder of glycosylation | 1 | Sep 26, 2019 |
| COL1A2-Related Disorder | 1 | Sep 26, 2019 |
| COL2A1-related phenotype | 1 | Sep 26, 2019 |
| COL6A2-related disorder | 1 | Sep 4, 2018 |
| COL6A3-related phenotype | 2 | Sep 26, 2019 |
| COL7A1-related disorders | 1 | Sep 26, 2019 |
| COMP-related disorders | 1 | Sep 26, 2019 |
| Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | 2 | Jan 13, 2021 |
| Cardiac valvular defect, developmental | 1 | Jan 13, 2021 |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency | 1 | Sep 26, 2019 |
| Cardiomyopathy, familial hypertrophic 27 | 1 | Jan 13, 2021 |
| Carnitine palmitoyltransferase II deficiency, infantile | 1 | Sep 26, 2019 |
| Carnitine palmitoyltransferase II deficiency, lethal neonatal | 1 | Jan 13, 2021 |
| Cataract 41 | 1 | Sep 4, 2018 |
| Cataract, autosomal recessive congenital 4 | 1 | Sep 26, 2019 |
| Cataract, congenital nuclear, autosomal recessive 3 | 1 | Feb 12, 2020 |
| Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 | 2 | Sep 26, 2019 |
| Cerebral cavernous malformation | 1 | Sep 26, 2019 |
| Cerebral palsy, spastic quadriplegic, 1 | 1 | Sep 26, 2019 |
| Cerebral palsy, spastic quadriplegic, 2 | 1 | Sep 4, 2018 |
| Cerebrooculofacioskeletal syndrome 3 | 1 | Sep 26, 2019 |
| Cerebrooculofacioskeletal syndrome 4 | 1 | Sep 4, 2018 |
| Charcot-Marie-Tooth disease axonal type 2K | 1 | Sep 26, 2019 |
| Charcot-Marie-Tooth disease, demyelinating, type 4F | 1 | Sep 26, 2019 |
| Charcot-Marie-Tooth disease, type 4B1 | 2 | Jan 13, 2021 |
| Charcot-Marie-Tooth disease, type 4D | 1 | Sep 26, 2019 |
| Charlevoix-Saguenay spastic ataxia | 1 | Jan 13, 2021 |
| Child syndrome | 1 | Sep 26, 2019 |
| Cholestasis, progressive familial intrahepatic 1 | 1 | Sep 26, 2019 |
| Choreoathetosis, hypothyroidism, and neonatal respiratory distress | 1 | Jan 13, 2021 |
| Chromosome 2q32-q33 deletion syndrome | 1 | Feb 12, 2020 |
| Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1 | 2 | Jan 13, 2021 |
| Chronic infantile neurological, cutaneous and articular syndrome | 1 | Feb 12, 2020 |
| Chédiak-Higashi syndrome | 1 | Feb 12, 2020 |
| Ciliary dyskinesia, primary, 15 | 2 | Jan 13, 2021 |
| Ciliary dyskinesia, primary, 29 | 1 | Sep 26, 2019 |
| Ciliary dyskinesia, primary, 3 | 3 | Jan 13, 2021 |
| Ciliary dyskinesia, primary, 35 | 1 | Sep 26, 2019 |
| Citrullinemia type I | 2 | Jan 13, 2021 |
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 2 | Sep 26, 2019 |
| Classic homocystinuria | 2 | Jan 13, 2021 |
| Cleidocranial dysostosis | 1 | Feb 12, 2020 |
| Cobalamin C disease | 2 | Jan 13, 2021 |
| Cockayne syndrome B | 1 | Sep 26, 2019 |
| Coenzyme Q10 deficiency, primary 1 | 1 | Apr 11, 2018 |
| Coenzyme Q10 deficiency, primary, 4 | 2 | Sep 26, 2019 |
| Coenzyme Q10 deficiency, primary, 5 | 1 | Sep 26, 2019 |
| Coffin-Siris syndrome 1 | 6 | Jan 13, 2021 |
| Cohen syndrome | 2 | Sep 26, 2019 |
| Cold-induced sweating syndrome 1 | 1 | Jan 13, 2021 |
| Combined deficiency of sialidase AND beta galactosidase | 1 | Sep 26, 2019 |
| Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | 1 | Sep 26, 2019 |
| Combined oxidative phosphorylation deficiency 11 | 1 | Sep 26, 2019 |
| Combined oxidative phosphorylation deficiency 14 | 1 | Sep 26, 2019 |
| Combined oxidative phosphorylation deficiency 17 | 2 | Sep 26, 2019 |
| Combined oxidative phosphorylation deficiency 23 | 1 | Sep 26, 2019 |
| Common variable immunodeficiency 2 | 1 | Jan 13, 2021 |
| Common variable immunodeficiency 8, with autoimmunity | 2 | Jan 13, 2021 |
| Complement component 6 deficiency | 1 | Sep 26, 2019 |
| Cone dystrophy with supernormal rod response | 1 | Jan 13, 2021 |
| Cone-rod dystrophy 7 | 1 | Feb 12, 2020 |
| Congenital anomalies of kidney and urinary tract 1, susceptibility to | 1 | Feb 12, 2020 |
| Congenital bile acid synthesis defect 2 | 1 | Sep 26, 2019 |
| Congenital disorder of glycosylation type 1N | 1 | Feb 12, 2020 |
| Congenital disorder of glycosylation type 1t | 1 | Sep 26, 2019 |
| Congenital disorder of glycosylation type 2i | 1 | Sep 4, 2018 |
| Congenital disorder of glycosylation, type Ia | 2 | Jan 13, 2021 |
| Congenital generalized lipodystrophy type 1 | 1 | Sep 26, 2019 |
| Congenital glucose-galactose malabsorption | 1 | Jan 13, 2021 |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 1 | Sep 26, 2019 |
| Congenital heart defects, multiple types, 4 | 1 | Feb 12, 2020 |
| Congenital hereditary endothelial dystrophy of the cornea | 1 | Jan 13, 2021 |
| Congenital hypotrichosis with juvenile macular dystrophy | 1 | Sep 26, 2019 |
| Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 2 | Sep 26, 2019 |
| Congenital microvillous atrophy | 2 | Jan 13, 2021 |
| Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | 1 | Jan 13, 2021 |
| Congenital secretory diarrhea, chloride type | 1 | Sep 26, 2019 |
| Cornelia de Lange syndrome 1 | 1 | Jan 13, 2021 |
| Cornelia de Lange syndrome 5 | 1 | Sep 26, 2019 |
| Cortical dysplasia, complex, with other brain malformations 3 | 1 | Sep 26, 2019 |
| Cortical dysplasia, complex, with other brain malformations 5 | 1 | Sep 26, 2019 |
| Cowden syndrome 1 | 2 | Jan 13, 2021 |
| Coxopodopatellar syndrome | 1 | Sep 26, 2019 |
| Cranioectodermal dysplasia 2 | 1 | Sep 26, 2019 |
| Craniosynostosis 3 | 1 | Jan 13, 2021 |
| Craniosynostosis 7 | 1 | Jan 13, 2021 |
| Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities | 1 | Sep 26, 2019 |
| Cystic fibrosis | 2 | Jan 13, 2021 |
| Cystinuria | 1 | Sep 26, 2019 |
| D-2-hydroxyglutaric aciduria 2 | 1 | Feb 12, 2020 |
| DACT1-related neural tube defects | 1 | Apr 11, 2018 |
| DPAGT1-CDG | 1 | Sep 26, 2019 |
| Deafness and myopia | 1 | Sep 4, 2018 |
| Deafness, autosomal dominant 1 | 1 | Feb 12, 2020 |
| Deafness, autosomal dominant 11 | 1 | Sep 26, 2019 |
| Deafness, autosomal dominant 65 | 1 | Sep 26, 2019 |
| Deafness, autosomal recessive 111 | 1 | Jan 13, 2021 |
| Deafness, autosomal recessive 23 | 1 | Jan 13, 2021 |
| Deafness, autosomal recessive 28 | 1 | Feb 12, 2020 |
| Deafness, autosomal recessive 3 | 2 | Sep 26, 2019 |
| Deafness, autosomal recessive 8 | 2 | Jan 13, 2021 |
| Deafness, autosomal recessive 9 | 1 | Apr 11, 2018 |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 3 | Jan 13, 2021 |
| Deficiency of acetyl-CoA acetyltransferase | 1 | Sep 26, 2019 |
| Deficiency of aromatic-L-amino-acid decarboxylase | 1 | Sep 26, 2019 |
| Deficiency of beta-ureidopropionase | 1 | Jan 13, 2021 |
| Deficiency of butyryl-CoA dehydrogenase | 1 | Sep 26, 2019 |
| Deficiency of hydroxymethylglutaryl-CoA lyase | 1 | Sep 26, 2019 |
| Deficiency of phosphoserine phosphatase | 1 | Jan 13, 2021 |
| Deficiency of transaldolase | 2 | Sep 26, 2019 |
| Dermatofibrosis lenticularis disseminata | 1 | Sep 4, 2018 |
| Developmental and epileptic encephalopathy, 56 | 1 | Jan 13, 2021 |
| Developmental and epileptic encephalopathy, 60 | 1 | Sep 26, 2019 |
| Developmental and epileptic encephalopathy, 64 | 1 | Sep 26, 2019 |
| Developmental and epileptic encephalopathy, 68 | 1 | Feb 12, 2020 |
| Developmental and epileptic encephalopathy, 69 | 1 | Sep 26, 2019 |
| Developmental and epileptic encephalopathy, 76 | 1 | Feb 12, 2020 |
| Developmental and epileptic encephalopathy, 77 | 1 | Jan 13, 2021 |
| Developmental delay with short stature, dysmorphic features, and sparse hair | 1 | Jan 13, 2021 |
| Diamond-Blackfan anemia 7 | 1 | Jan 13, 2021 |
| Diarrhea 5, with tufting enteropathy, congenital | 1 | Sep 4, 2018 |
| Diarrhea 8, secretory sodium, congenital | 1 | Sep 4, 2018 |
| Dilated cardiomyopathy 1A | 1 | Feb 12, 2020 |
| Dilated cardiomyopathy 1S | 2 | Sep 26, 2019 |
| Dilated cardiomyopathy with woolly hair and keratoderma | 2 | Feb 12, 2020 |
| Distal arthrogryposis type 1B | 1 | Sep 4, 2018 |
| Distal arthrogryposis type 5D | 2 | Feb 12, 2020 |
| Distal hereditary motor neuronopathy 2D | 1 | Feb 12, 2020 |
| Dubin-Johnson syndrome | 1 | Sep 4, 2018 |
| ELN-related disorder | 1 | Sep 4, 2018 |
| Early infantile epileptic encephalopathy 11 | 1 | Jan 13, 2021 |
| Early infantile epileptic encephalopathy 18 | 1 | Sep 4, 2018 |
| Early infantile epileptic encephalopathy 2 | 1 | Sep 26, 2019 |
| Early infantile epileptic encephalopathy 7 | 1 | Sep 26, 2019 |
| Early infantile epileptic encephalopathy 8 | 1 | Sep 4, 2018 |
| Early myoclonic encephalopathy | 1 | Sep 26, 2019 |
| Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal | 1 | Feb 12, 2020 |
| Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss | 1 | Jan 13, 2021 |
| Ehlers-Danlos syndrome, classic type | 1 | Sep 26, 2019 |
| Ehlers-Danlos syndrome, musculocontractural type | 1 | Feb 12, 2020 |
| Ehlers-Danlos syndrome, musculocontractural type 2 | 1 | Sep 4, 2018 |
| Eichsfeld type congenital muscular dystrophy | 2 | Sep 4, 2018 |
| Elliptocytosis 2 | 1 | Feb 12, 2020 |
| Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 | 1 | Feb 12, 2020 |
| Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | 2 | Sep 26, 2019 |
| Epidermolysis bullosa simplex, autosomal recessive 2 | 1 | Jan 13, 2021 |
| Epilepsy, childhood absence 6 | 1 | Feb 12, 2020 |
| Epilepsy, familial focal, with variable foci 2 | 4 | Jan 13, 2021 |
| Epilepsy, familial focal, with variable foci 4 | 1 | Feb 12, 2020 |
| Epilepsy, familial temporal lobe, 7 | 1 | Jan 13, 2021 |
| Epilepsy, focal, with speech disorder and with or without mental retardation | 1 | Sep 26, 2019 |
| Epilepsy, hearing loss, and mental retardation syndrome | 1 | Jan 13, 2021 |
| Epilepsy, idiopathic generalized 10 | 1 | Sep 4, 2018 |
| Epilepsy, nocturnal frontal lobe, type 4 | 1 | Sep 26, 2019 |
| Epilepsy, progressive myoclonic 3 | 1 | Sep 26, 2019 |
| Epilepsy, progressive myoclonic 4, with or without renal failure | 1 | Jan 13, 2021 |
| Epileptic encephalopathy | 1 | Sep 4, 2018 |
| Epileptic encephalopathy, early infantile, 19 | 1 | Sep 26, 2019 |
| Epileptic encephalopathy, early infantile, 25 | 2 | Sep 26, 2019 |
| Epileptic encephalopathy, early infantile, 26 | 2 | Feb 12, 2020 |
| Epileptic encephalopathy, early infantile, 27 | 2 | Feb 12, 2020 |
| Epileptic encephalopathy, early infantile, 32 | 2 | Sep 26, 2019 |
| Ethylmalonic encephalopathy | 1 | Sep 26, 2019 |
| Exudative vitreoretinopathy 1 | 1 | Sep 26, 2019 |
| Exudative vitreoretinopathy 7 | 1 | Jan 13, 2021 |
| Factor v and factor viii, combined deficiency of, 2 | 1 | Sep 26, 2019 |
| Failure of tooth eruption, primary | 1 | Sep 4, 2018 |
| Familial adenomatous polyposis 1 | 1 | Feb 12, 2020 |
| Familial hemophagocytic lymphohistiocytosis 2 | 2 | Jan 13, 2021 |
| Familial hemophagocytic lymphohistiocytosis 4 | 1 | Sep 26, 2019 |
| Familial hypercholesterolemia 1 | 5 | Feb 12, 2020 |
| Familial mediterranean fever, autosomal dominant | 3 | Jan 13, 2021 |
| Familial platelet disorder with associated myeloid malignancy | 1 | Sep 26, 2019 |
| Fanconi anemia, complementation group D1 | 4 | Feb 12, 2020 |
| Fanconi anemia, complementation group G | 1 | Sep 6, 2021 |
| Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | 1 | Feb 12, 2020 |
| Fetal hemoglobin quantitative trait locus 1 | 1 | Sep 4, 2018 |
| Finnish congenital nephrotic syndrome | 1 | Sep 26, 2019 |
| Focal dermal hypoplasia | 1 | Feb 12, 2020 |
| Frank-Ter Haar syndrome | 1 | Sep 26, 2019 |
| Fraser syndrome 1 | 2 | Jan 13, 2021 |
| Frontometaphyseal dysplasia 2 | 1 | Sep 26, 2019 |
| Fructose-biphosphatase deficiency | 1 | Jan 13, 2021 |
| GLI3-related postaxial polydactyly | 1 | Sep 26, 2019 |
| GM3 synthase deficiency | 1 | Feb 12, 2020 |
| GNE myopathy | 1 | Feb 12, 2020 |
| Galactosylceramide beta-galactosidase deficiency | 1 | Sep 4, 2018 |
| Gaze palsy, familial horizontal, with progressive scoliosis 1 | 1 | Sep 4, 2018 |
| Generalized epilepsy with febrile seizures plus, type 1 | 1 | Sep 26, 2019 |
| Geroderma osteodysplastica | 1 | Sep 26, 2019 |
| Ghosal hematodiaphyseal dysplasia | 1 | Jan 13, 2021 |
| Glanzmann thrombasthenia | 1 | Sep 26, 2019 |
| Glaucoma 3, primary congenital, A | 2 | Sep 26, 2019 |
| Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency | 1 | Sep 26, 2019 |
| Glucocorticoid deficiency with achalasia | 2 | Sep 26, 2019 |
| Glucose-6-phosphate transport defect | 2 | Jan 13, 2021 |
| Glutaric aciduria, type 1 | 1 | Jan 13, 2021 |
| Gluthathione synthetase deficiency | 1 | Sep 26, 2019 |
| Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2 | Jan 13, 2021 |
| Glycogen storage disease type III | 2 | Feb 12, 2020 |
| Glycogen storage disease, type II | 4 | Jan 13, 2021 |
| Glycogen storage disease, type IV | 1 | Sep 4, 2018 |
| Gordon Holmes syndrome | 1 | Sep 26, 2019 |
| Grebe syndrome | 1 | Feb 12, 2020 |
| Griscelli syndrome type 1 | 1 | Sep 4, 2018 |
| Griscelli syndrome type 2 | 1 | Sep 26, 2019 |
| Griscelli syndrome type 3 | 1 | Jan 13, 2021 |
| Growth delay due to insulin-like growth factor I resistance | 1 | Sep 26, 2019 |
| Harel-Yoon syndrome | 1 | Sep 4, 2018 |
| Heart and brain malformation syndrome | 1 | Sep 4, 2018 |
| Helsmoortel-Van der Aa Syndrome | 2 | Feb 12, 2020 |
| Hemochromatosis type 2A | 1 | Sep 26, 2019 |
| Hemophagocytic lymphohistiocytosis, familial, 5 | 1 | Sep 26, 2019 |
| Hereditary factor VIII deficiency disease | 1 | Sep 4, 2018 |
| Hereditary fructosuria | 2 | Jan 13, 2021 |
| Hereditary insensitivity to pain with anhidrosis | 1 | Sep 26, 2019 |
| Hereditary sensory and autonomic neuropathy type IIB | 1 | Sep 26, 2019 |
| Hereditary spastic paraplegia 3A | 1 | Sep 26, 2019 |
| Hermansky-Pudlak syndrome 5 | 1 | Sep 26, 2019 |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 2 | Feb 12, 2020 |
| Human HOXA1 syndromes | 1 | Sep 26, 2019 |
| Hyaline fibromatosis syndrome | 1 | Jan 13, 2021 |
| Hydrocephalus, congenital, 2, with or without brain or eye anomalies | 3 | Jan 13, 2021 |
| Hydrops, lactic acidosis, and sideroblastic anemia | 1 | Sep 4, 2018 |
| Hyperglycinuria | 1 | Sep 4, 2018 |
| Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive | 1 | Sep 26, 2019 |
| Hyperphenylalaninemia, mild, non-bh4-deficient | 1 | Sep 26, 2019 |
| Hyperphosphatasia with mental retardation syndrome 4 | 1 | Sep 26, 2019 |
| Hypocalciuric hypercalcemia, familial, type III | 1 | Jan 13, 2021 |
| Hypoglycemia, neonatal, simulating foetopathia diabetica | 1 | Jan 13, 2021 |
| Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities | 1 | Sep 26, 2019 |
| Hypoparathyroidism-retardation-dysmorphism syndrome | 1 | Feb 12, 2020 |
| Hypotonia, ataxia, and delayed development syndrome | 2 | Jan 13, 2021 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 3 | Sep 26, 2019 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 2 | Jan 13, 2021 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 1 | Jan 13, 2021 |
| Hypotrichosis 8 | 1 | Sep 4, 2018 |
| INSR-related disorder | 1 | Sep 26, 2019 |
| ISPD-Related Disorder | 1 | Sep 26, 2019 |
| Idiopathic nephrotic syndrome | 1 | Jan 13, 2021 |
| Imerslund-Gräsbeck syndrome | 1 | Sep 26, 2019 |
| Immunodeficiency 29 | 1 | Sep 26, 2019 |
| Immunodeficiency 30 | 1 | Jan 13, 2021 |
| Immunodeficiency 46 | 1 | Sep 26, 2019 |
| Immunodeficiency 57 | 1 | Sep 26, 2019 |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | 1 | Sep 26, 2019 |
| Infantile GM1 gangliosidosis | 1 | Sep 26, 2019 |
| Infantile cerebellar-retinal degeneration | 1 | Sep 4, 2018 |
| Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | 1 | Feb 12, 2020 |
| Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 1 | Feb 12, 2020 |
| Intellectual developmental disorder with speech delay and axonal peripheral neuropathy | 1 | Jan 13, 2021 |
| Intellectual disability, X-linked syndromic, Turner type | 1 | Feb 12, 2020 |
| Intellectual disability, autosomal dominant 45 | 1 | Sep 26, 2019 |
| Intellectual disability, autosomal dominant 50 | 1 | Sep 26, 2019 |
| Intellectual disability, autosomal dominant 52 | 1 | Sep 26, 2019 |
| Iodotyrosyl coupling defect | 1 | Feb 12, 2020 |
| Isolated sulfite oxidase deficiency | 1 | Sep 26, 2019 |
| Jaberi-Elahi syndrome | 1 | Sep 26, 2019 |
| Johanson-Blizzard syndrome | 1 | Sep 26, 2019 |
| Joubert syndrome 1 | 2 | Sep 26, 2019 |
| Joubert syndrome 13 | 1 | Jan 13, 2021 |
| Joubert syndrome 17 | 3 | Sep 26, 2019 |
| Joubert syndrome 21 | 1 | Sep 26, 2019 |
| Joubert syndrome 23 | 1 | Sep 26, 2019 |
| Joubert syndrome 26 | 2 | Feb 12, 2020 |
| Joubert syndrome 5 | 2 | Jan 13, 2021 |
| Joubert syndrome 9 | 3 | Sep 26, 2019 |
| Junctional epidermolysis bullosa gravis of Herlitz | 1 | Sep 4, 2018 |
| Junctional epidermolysis bullosa, non-Herlitz type | 1 | Sep 4, 2018 |
| Juvenile arthritis due to defect in LACC1 | 2 | Jan 13, 2021 |
| Juvenile retinoschisis | 1 | Jan 13, 2021 |
| KBG syndrome | 2 | Jan 13, 2021 |
| KCNQ2-Related Disorders | 1 | Apr 11, 2018 |
| Kabuki syndrome 1 | 1 | Feb 12, 2020 |
| Kallmann syndrome 3 | 2 | Jan 13, 2021 |
| Kartagener syndrome | 1 | Jan 13, 2021 |
| Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism | 2 | Sep 26, 2019 |
| Knobloch syndrome 1 | 1 | Sep 26, 2019 |
| Koolen-de Vries syndrome | 1 | Jan 13, 2021 |
| Kostmann syndrome | 1 | Sep 26, 2019 |
| LTBP2-related Disorder | 1 | Sep 4, 2018 |
| Lamb-shaffer syndrome | 1 | Sep 4, 2018 |
| Leber congenital amaurosis 1 | 1 | Sep 26, 2019 |
| Leber congenital amaurosis 6 | 1 | Sep 26, 2019 |
| Lenz-Majewski hyperostosis syndrome | 1 | Sep 26, 2019 |
| Lethal Kniest-like syndrome | 1 | Sep 26, 2019 |
| Lethal congenital contracture syndrome 2 | 1 | Sep 26, 2019 |
| Leukodystrophy, hypomyelinating, 10 | 1 | Sep 26, 2019 |
| Leukodystrophy, hypomyelinating, 15 | 1 | Sep 26, 2019 |
| Leukoencephalopathy with vanishing white matter | 2 | Sep 26, 2019 |
| Li-Fraumeni syndrome 1 | 1 | Feb 12, 2020 |
| Limb-girdle muscular dystrophy, type 2J | 2 | Sep 26, 2019 |
| Limb-girdle muscular dystrophy, type 2S | 2 | Sep 26, 2019 |
| Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 | 2 | Sep 26, 2019 |
| Lipase deficiency, combined | 1 | Jan 13, 2021 |
| Lissencephaly 3 | 4 | Jan 13, 2021 |
| Lissencephaly 4 | 1 | Sep 26, 2019 |
| Lissencephaly 9 with complex brainstem malformation | 1 | Feb 12, 2020 |
| Loeys-Dietz syndrome 2 | 1 | Sep 4, 2018 |
| Long QT syndrome 1 | 2 | Jan 13, 2021 |
| MAP3K7-related disorder | 1 | Sep 26, 2019 |
| MSH2-related disorder | 1 | Sep 4, 2018 |
| Macrocephaly, acquired, with impaired intellectual development | 1 | Sep 26, 2019 |
| Maple syrup urine disease | 3 | Jan 13, 2021 |
| Maple syrup urine disease, type 3 | 2 | Sep 26, 2019 |
| Marfan syndrome | 2 | Feb 12, 2020 |
| Mast cell disease, systemic | 1 | Sep 4, 2018 |
| Maturity-onset diabetes of the young type 8 | 2 | Feb 12, 2020 |
| Meckel syndrome 12 | 1 | Jan 13, 2021 |
| Meckel syndrome, type 11 | 1 | Sep 4, 2018 |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 1 | Jan 13, 2021 |
| Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance | 1 | Jan 13, 2021 |
| Mental retardation and microcephaly with pontine and cerebellar hypoplasia | 1 | Sep 4, 2018 |
| Mental retardation, X-linked 101 | 1 | Sep 26, 2019 |
| Mental retardation, X-linked 12 | 1 | Sep 4, 2018 |
| Mental retardation, X-linked 93 | 1 | Sep 26, 2019 |
| Mental retardation, X-linked 99 | 1 | Sep 4, 2018 |
| Mental retardation, X-linked, syndromic, wu type | 1 | Sep 26, 2019 |
| Mental retardation, autosomal dominant 13 | 1 | Sep 26, 2019 |
| Mental retardation, autosomal dominant 14 | 1 | Jan 13, 2021 |
| Mental retardation, autosomal dominant 19 | 2 | Sep 26, 2019 |
| Mental retardation, autosomal dominant 23 | 1 | Sep 26, 2019 |
| Mental retardation, autosomal dominant 24 | 1 | Sep 4, 2018 |
| Mental retardation, autosomal dominant 34 | 1 | Sep 4, 2018 |
| Mental retardation, autosomal dominant 39 | 1 | Sep 4, 2018 |
| Mental retardation, autosomal dominant 40 | 1 | Sep 4, 2018 |
| Mental retardation, autosomal dominant 5 | 1 | Sep 26, 2019 |
| Mental retardation, autosomal dominant 6 | 1 | Jan 13, 2021 |
| Mental retardation, autosomal recessive 13 | 1 | Sep 26, 2019 |
| Mental retardation, autosomal recessive 15 | 1 | Sep 26, 2019 |
| Mental retardation, autosomal recessive 27 | 1 | Sep 26, 2019 |
| Mental retardation, autosomal recessive 3 | 2 | Feb 12, 2020 |
| Mental retardation, autosomal recessive 36 | 1 | Sep 26, 2019 |
| Mental retardation, autosomal recessive 5 | 1 | Feb 12, 2020 |
| Mental retardation, autosomal recessive 55 | 1 | Sep 26, 2019 |
| Mental retardation, autosomal recessive 7 | 1 | Jan 13, 2021 |
| Mental retardation, syndromic, Claes-Jensen type, X-linked | 1 | Sep 4, 2018 |
| Merosin deficient congenital muscular dystrophy | 3 | Sep 26, 2019 |
| Metachromatic leukodystrophy | 1 | Jan 13, 2021 |
| Metaphyseal chondrodysplasia, Schmid type | 1 | Sep 26, 2019 |
| Metaphyseal chondrodysplasia, Spahr type | 1 | Sep 4, 2018 |
| Methylmalonic aciduria and homocystinuria type cblF | 1 | Sep 26, 2019 |
| Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 2 | Jan 13, 2021 |
| Microcephalic osteodysplastic primordial dwarfism type II | 1 | Sep 26, 2019 |
| Microcephaly 17, primary, autosomal recessive | 3 | Sep 26, 2019 |
| Microcephaly and chorioretinopathy, autosomal recessive, 1 | 1 | Jan 13, 2021 |
| Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | 2 | Jan 13, 2021 |
| Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome | 1 | Sep 26, 2019 |
| Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy | 1 | Feb 12, 2020 |
| Microphthalmia, isolated 2 | 1 | Jan 13, 2021 |
| Microphthalmia, syndromic 12 | 1 | Sep 26, 2019 |
| Microphthalmia/coloboma and skeletal dysplasia syndrome | 1 | Sep 26, 2019 |
| Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 1 | Feb 12, 2020 |
| Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 1 | Sep 26, 2019 |
| Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 1 | Sep 26, 2019 |
| Mitochondrial complex 1 deficiency, nuclear type 16 | 1 | Sep 26, 2019 |
| Mitochondrial complex 1 deficiency, nuclear type 2 | 1 | Feb 12, 2020 |
| Mitochondrial complex 1 deficiency, nuclear type 23 | 1 | Sep 26, 2019 |
| Mitochondrial complex 1 deficiency, nuclear type 4 | 1 | Sep 26, 2019 |
| Mitochondrial complex 1 deficiency, nuclear type 5 | 2 | Sep 26, 2019 |
| Mitochondrial complex 1 deficiency, nuclear type 9 | 1 | Sep 26, 2019 |
| Mitochondrial complex I deficiency, nuclear type 1 | 1 | Sep 26, 2019 |
| Mitochondrial short-chain enoyl-coa hydratase 1 deficiency | 1 | Apr 11, 2018 |
| Monocarboxylate transporter 1 deficiency | 1 | Sep 26, 2019 |
| Mowat-Wilson syndrome | 1 | Sep 26, 2019 |
| Mucolipidosis type IV | 1 | Sep 26, 2019 |
| Mucopolysaccharidosis type 6 | 2 | Sep 26, 2019 |
| Mucopolysaccharidosis type 7 | 2 | Jan 13, 2021 |
| Mucopolysaccharidosis, MPS-IV-A | 3 | Feb 12, 2020 |
| Muenke syndrome | 1 | Jan 13, 2021 |
| Multiple acyl-CoA dehydrogenase deficiency | 2 | Sep 26, 2019 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 2 | Feb 12, 2020 |
| Multiple endocrine neoplasia, type 4 | 1 | Sep 26, 2019 |
| Multiple exostoses type 1 | 1 | Sep 26, 2019 |
| Multiple mitochondrial dysfunctions syndrome 4 | 1 | Sep 26, 2019 |
| Multiple sulfatase deficiency | 1 | Sep 4, 2018 |
| Muscular dystrophy, limb-girdle, autosomal recessive 23 | 1 | Sep 26, 2019 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | 1 | Sep 26, 2019 |
| Myoclonic-atonic epilepsy | 1 | Feb 12, 2020 |
| Myopathy with extrapyramidal signs | 1 | Sep 26, 2019 |
| Myopathy, centronuclear, 4 | 1 | Sep 26, 2019 |
| Myopathy, centronuclear, 5 | 1 | Sep 26, 2019 |
| Myopathy, congenital, with neuropathy and deafness | 1 | Sep 26, 2019 |
| Myopathy, early-onset, with fatal cardiomyopathy | 1 | Jan 13, 2021 |
| Nail disorder, nonsyndromic congenital, 1 | 1 | Jan 13, 2021 |
| Navajo neurohepatopathy | 1 | Jan 13, 2021 |
| Nemaline myopathy 2 | 1 | Sep 26, 2019 |
| Nemaline myopathy 3 | 1 | Feb 12, 2020 |
| Nemaline myopathy 7 | 1 | Sep 26, 2019 |
| Nephrogenic diabetes insipidus, autosomal | 1 | Feb 12, 2020 |
| Nephronophthisis 14 | 1 | Sep 26, 2019 |
| Nephronophthisis 15 | 2 | Jan 13, 2021 |
| Nephronophthisis 20 | 1 | Sep 26, 2019 |
| Nephronophthisis 3 | 1 | Sep 26, 2019 |
| Nephrotic syndrome, type 3 | 2 | Sep 26, 2019 |
| Nephrotic syndrome, type 9 | 1 | Sep 26, 2019 |
| Neurodegeneration with brain iron accumulation 2b | 1 | Sep 26, 2019 |
| Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | 1 | Sep 26, 2019 |
| Neurodevelopmental disorder with hypotonia, seizures, and absent language | 1 | Feb 12, 2020 |
| Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | 1 | Sep 4, 2018 |
| Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | 1 | Feb 12, 2020 |
| Neurodevelopmental disorder with midbrain and hindbrain malformations | 1 | Sep 26, 2019 |
| Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | 1 | Feb 12, 2020 |
| Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | 1 | Sep 4, 2018 |
| Neurofibromatosis, type 1 | 4 | Feb 12, 2020 |
| Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | 1 | Sep 26, 2019 |
| Neuronal ceroid lipofuscinosis 5 | 2 | Feb 12, 2020 |
| Neuronal ceroid lipofuscinosis 6 | 1 | Sep 26, 2019 |
| Neuronal ceroid lipofuscinosis 8 | 2 | Sep 26, 2019 |
| Neutropenia, severe congenital, 8, autosomal dominant | 1 | Jan 13, 2021 |
| Nicolaides-Baraitser syndrome | 1 | Jan 13, 2021 |
| Niemann-Pick disease type C1 | 1 | Jan 13, 2021 |
| Niemann-Pick disease, type A | 1 | Sep 26, 2019 |
| Nijmegen breakage syndrome-like disorder | 1 | Sep 26, 2019 |
| Non-acquired combined pituitary hormone deficiency with spine abnormalities | 1 | Sep 4, 2018 |
| Non-ketotic hyperglycinemia | 2 | Sep 26, 2019 |
| Noonan syndrome 1 | 5 | Jan 13, 2021 |
| Noonan syndrome 10 | 1 | Sep 26, 2019 |
| Noonan syndrome 4 | 1 | Sep 4, 2018 |
| Noonan syndrome 5 | 1 | Feb 12, 2020 |
| Noonan syndrome 8 | 2 | Feb 12, 2020 |
| Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | 2 | Feb 12, 2020 |
| Norman-Roberts syndrome | 1 | Sep 26, 2019 |
| Obesity | 2 | Sep 26, 2019 |
| Occult macular dystrophy | 1 | Jan 13, 2021 |
| Oculocutaneous albinism type 1B | 1 | Sep 26, 2019 |
| Oculofaciocardiodental syndrome | 1 | Feb 12, 2020 |
| Orofaciodigital syndrome 18 | 1 | Sep 4, 2018 |
| Orofaciodigital syndrome I | 1 | Sep 26, 2019 |
| Orofaciodigital syndrome V | 2 | Jan 13, 2021 |
| Orofaciodigital syndrome xiv | 2 | Sep 26, 2019 |
| Osteogenesis imperfecta type 8 | 2 | Jan 13, 2021 |
| Osteogenesis imperfecta, type xv | 1 | Sep 4, 2018 |
| Osteopetrosis with renal tubular acidosis | 1 | Sep 26, 2019 |
| Otofaciocervical syndrome 2 | 1 | Feb 12, 2020 |
| PARS2-related disorder | 1 | Sep 4, 2018 |
| PTPN11-related disorder | 2 | Sep 4, 2018 |
| Pancreatic agenesis 2 | 1 | Sep 26, 2019 |
| Parkinson disease 6, autosomal recessive early-onset | 1 | Sep 26, 2019 |
| Parkinson disease 7 | 1 | Feb 12, 2020 |
| Peeling skin syndrome 2 | 1 | Feb 12, 2020 |
| Peeling skin syndrome 6 | 1 | Sep 4, 2018 |
| Pendred syndrome | 2 | Feb 12, 2020 |
| Periventricular nodular heterotopia 1 | 1 | Sep 26, 2019 |
| Peroxisomal fatty acyl-coa reductase 1 disorder | 1 | Sep 26, 2019 |
| Peroxisome biogenesis disorder 1A (Zellweger) | 1 | Sep 26, 2019 |
| Peroxisome biogenesis disorder 2A (Zellweger) | 1 | Sep 4, 2018 |
| Peroxisome biogenesis disorder 2B | 1 | Sep 4, 2018 |
| Phosphate transport defect | 1 | Sep 26, 2019 |
| Phosphoglycerate kinase 1 deficiency | 1 | Sep 26, 2019 |
| Pitt-Hopkins syndrome | 1 | Jan 13, 2021 |
| Pitt-Hopkins-like syndrome 1 | 1 | Sep 26, 2019 |
| Platelet-type bleeding disorder 16 | 1 | Feb 12, 2020 |
| Poikiloderma with neutropenia | 1 | Sep 26, 2019 |
| Polyarteritis nodosa, childhoood-onset | 1 | Sep 26, 2019 |
| Polycystic kidney disease 2 | 2 | Jan 13, 2021 |
| Polycystic kidney disease 4 | 1 | Jan 13, 2021 |
| Polycystic kidney disease, adult type | 6 | Jan 13, 2021 |
| Polyglandular autoimmune syndrome, type 1 | 2 | Jan 13, 2021 |
| Polyglucosan body myopathy 1 with or without immunodeficiency | 2 | Jan 13, 2021 |
| Polyhydramnios, megalencephaly, and symptomatic epilepsy | 1 | Sep 26, 2019 |
| Polymicrogyria with optic nerve hypoplasia | 1 | Sep 4, 2018 |
| Polymicrogyria, asymmetric | 1 | Sep 26, 2019 |
| Pontocerebellar hypoplasia, type 1d | 1 | Jan 13, 2021 |
| Porencephaly 2 | 1 | Feb 12, 2020 |
| Precocious puberty, central, 1 | 1 | Sep 26, 2019 |
| Primary autosomal recessive microcephaly 1 | 1 | Jan 13, 2021 |
| Primary autosomal recessive microcephaly 10 | 1 | Sep 26, 2019 |
| Primary autosomal recessive microcephaly 4 | 2 | Jan 13, 2021 |
| Primary autosomal recessive microcephaly 5 | 6 | Jan 13, 2021 |
| Primary autosomal recessive microcephaly 9 | 1 | Sep 26, 2019 |
| Primary hyperoxaluria, type I | 1 | Jan 13, 2021 |
| Primary hypomagnesemia | 1 | Sep 4, 2018 |
| Primary pulmonary hypertension 4 | 1 | Sep 4, 2018 |
| Progressive bulbar palsy of childhood | 1 | Sep 26, 2019 |
| Progressive familial intrahepatic cholestasis 2 | 3 | Sep 26, 2019 |
| Progressive familial intrahepatic cholestasis 3 | 1 | Apr 11, 2018 |
| Progressive familial intrahepatic cholestasis 4 | 1 | Sep 26, 2019 |
| Progressive myositis ossificans | 1 | Sep 26, 2019 |
| Progressive pseudorheumatoid dysplasia | 2 | Feb 12, 2020 |
| Progressive sclerosing poliodystrophy | 1 | Sep 26, 2019 |
| Propionic acidemia | 3 | Sep 26, 2019 |
| Pseudo-TORCH syndrome 1 | 1 | Sep 26, 2019 |
| Pseudo-TORCH syndrome 2 | 1 | Jan 13, 2021 |
| Pseudoxanthoma elasticum | 1 | Feb 12, 2020 |
| Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | 1 | Sep 26, 2019 |
| Pyruvate dehydrogenase E1-alpha deficiency | 2 | Feb 12, 2020 |
| Question mark ears, isolated | 1 | Sep 4, 2018 |
| Radial aplasia-thrombocytopenia syndrome | 1 | Jan 13, 2021 |
| Renal carnitine transport defect | 1 | Sep 26, 2019 |
| Renal hypouricemia 2 | 1 | Sep 26, 2019 |
| Reticular dysgenesis | 1 | Jan 13, 2021 |
| Retinitis pigmentosa 1 | 1 | Sep 26, 2019 |
| Retinitis pigmentosa 14 | 1 | Feb 12, 2020 |
| Retinitis pigmentosa 25 | 1 | Jan 13, 2021 |
| Retinitis pigmentosa 54 | 1 | Jan 13, 2021 |
| Retinitis pigmentosa 59 | 1 | Sep 26, 2019 |
| Rett syndrome | 1 | Sep 26, 2019 |
| Roberts-SC phocomelia syndrome | 1 | Sep 26, 2019 |
| Robinow syndrome, autosomal dominant 3 | 1 | Sep 26, 2019 |
| Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked | 1 | Sep 4, 2018 |
| Rubinstein-Taybi syndrome 1 | 1 | Sep 4, 2018 |
| SLC25A42-related mitochondrial disorder | 1 | Sep 26, 2019 |
| SLC39A8-CDG | 1 | Sep 26, 2019 |
| Salla disease | 1 | Sep 26, 2019 |
| Sandhoff disease | 3 | Jan 13, 2021 |
| Schaaf-Yang syndrome | 1 | Jan 13, 2021 |
| Seizures, benign familial infantile, 2 | 1 | Jan 13, 2021 |
| Sengers syndrome | 1 | Sep 26, 2019 |
| Senior-Loken syndrome 8 | 1 | Sep 26, 2019 |
| Short-rib thoracic dysplasia 14 with polydactyly | 1 | Jan 13, 2021 |
| Short-rib thoracic dysplasia 15 with polydactyly | 1 | Sep 26, 2019 |
| Sialuria | 1 | Jan 13, 2021 |
| Skin/hair/eye pigmentation, variation in, 5 | 1 | Feb 12, 2020 |
| Smith-Lemli-Opitz syndrome | 3 | Jan 13, 2021 |
| Smith-Magenis syndrome | 1 | Sep 26, 2019 |
| Sotos syndrome 1 | 1 | Sep 26, 2019 |
| Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | 1 | Sep 4, 2018 |
| Spastic paraplegia 28, autosomal recessive | 1 | Sep 26, 2019 |
| Spastic paraplegia 4, autosomal dominant | 1 | Sep 26, 2019 |
| Spastic paraplegia 56, autosomal recessive | 1 | Sep 4, 2018 |
| Spastic tetraplegia, thin corpus callosum, and progressive microcephaly | 1 | Sep 26, 2019 |
| Spherocytosis type 3 | 1 | Sep 26, 2019 |
| Sphingolipid activator protein 1 deficiency | 1 | Sep 26, 2019 |
| Spinal muscular atrophy, distal, autosomal recessive, 1 | 1 | Sep 26, 2019 |
| Spinocerebellar ataxia, autosomal recessive 15 | 2 | Sep 26, 2019 |
| Spinocerebellar ataxia, autosomal recessive 17 | 1 | Sep 26, 2019 |
| Spinocerebellar ataxia, autosomal recessive 18 | 1 | Sep 26, 2019 |
| Spinocerebellar ataxia, autosomal recessive 20 | 2 | Sep 26, 2019 |
| Spinocerebellar ataxia, autosomal recessive 21 | 1 | Sep 26, 2019 |
| Split-hand/foot malformation 6 | 1 | Apr 11, 2018 |
| Spondylocarpotarsal synostosis syndrome | 1 | Feb 12, 2020 |
| Spondyloepimetaphyseal dysplasia, aggrecan type | 1 | Sep 26, 2019 |
| Spondyloepiphyseal dysplasia with congenital joint dislocations | 1 | Feb 12, 2020 |
| Spondylometaphyseal dysplasia, Kozlowski type | 1 | Jan 13, 2021 |
| Spondyloocular syndrome, autosomal recessive | 1 | Sep 26, 2019 |
| Spondyloperipheral dysplasia-short ulna syndrome | 1 | Sep 26, 2019 |
| Striatonigral degeneration infantile | 1 | Sep 26, 2019 |
| Succinyl-CoA acetoacetate transferase deficiency | 2 | Feb 12, 2020 |
| Surfactant metabolism dysfunction, pulmonary, 3 | 1 | Jan 13, 2021 |
| Syndromic X-linked intellectual disability Snyder type | 1 | Sep 26, 2019 |
| TTN-Related Disorders | 1 | Sep 26, 2019 |
| TWIST1-related disorder | 1 | Sep 26, 2019 |
| Tatton-Brown-rahman syndrome | 1 | Feb 12, 2020 |
| Tay-Sachs disease, variant AB | 1 | Sep 26, 2019 |
| Temtamy syndrome | 2 | Sep 26, 2019 |
| Thauvin-Robinet-Faivre syndrome | 1 | Sep 26, 2019 |
| Three M syndrome 1 | 2 | Feb 12, 2020 |
| Three M syndrome 3 | 1 | Jan 13, 2021 |
| Thrombocythemia 1 | 1 | Sep 26, 2019 |
| Thrombocytopenia 2 | 2 | Jan 13, 2021 |
| Thrombocytopenia, anemia, and myelofibrosis | 2 | Jan 13, 2021 |
| Thrombophilia, X-linked, due to factor IX defect | 1 | Feb 12, 2020 |
| Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive | 1 | Sep 26, 2019 |
| Tibial muscular dystrophy | 2 | Sep 4, 2018 |
| Treacher Collins syndrome 1 | 1 | Jan 13, 2021 |
| Tricho-dento-osseous syndrome | 1 | Sep 26, 2019 |
| Trichohepatoenteric syndrome 1 | 2 | Sep 26, 2019 |
| Trichohepatoenteric syndrome 2 | 2 | Feb 12, 2020 |
| Trichohepatoneurodevelopmental syndrome | 1 | Jan 13, 2021 |
| Tuberous sclerosis 1 | 1 | Feb 12, 2020 |
| Tuberous sclerosis 2 | 1 | Feb 12, 2020 |
| Turcot syndrome | 3 | Feb 12, 2020 |
| Tyrosinase-negative oculocutaneous albinism | 1 | Sep 26, 2019 |
| Tyrosinase-positive oculocutaneous albinism | 1 | Sep 26, 2019 |
| Ullrich congenital muscular dystrophy 1 | 1 | Sep 26, 2019 |
| Ullrich congenital muscular dystrophy 2 | 1 | Sep 26, 2019 |
| Usher syndrome type 1 | 2 | Feb 12, 2020 |
| Usher syndrome type 1D | 1 | Sep 26, 2019 |
| Usher syndrome, type 1G | 1 | Sep 26, 2019 |
| Usher syndrome, type 2A | 1 | Sep 26, 2019 |
| Usher syndrome, type 2C | 1 | Sep 26, 2019 |
| Uterine leiomyoma | 1 | Sep 26, 2019 |
| Van den Ende-Gupta syndrome | 1 | Jan 13, 2021 |
| Ventricular tachycardia, catecholaminergic polymorphic, 3 | 1 | Feb 12, 2020 |
| Verheij syndrome | 1 | Sep 26, 2019 |
| Very long chain acyl-CoA dehydrogenase deficiency | 5 | Jan 13, 2021 |
| Vici syndrome | 1 | Feb 12, 2020 |
| Vitamin B12-responsive methylmalonic acidemia type cblA | 1 | Feb 12, 2020 |
| Vitamin D-dependent rickets type II with alopecia | 1 | Jan 13, 2021 |
| Vitamin D-dependent rickets, type 1 | 2 | Feb 12, 2020 |
| Von Hippel-Lindau syndrome | 1 | Feb 12, 2020 |
| Waardenburg syndrome type 1 | 1 | Sep 26, 2019 |
| Warburg micro syndrome 1 | 2 | Sep 26, 2019 |
| Warsaw breakage syndrome | 1 | Sep 26, 2019 |
| Weiss-kruszka syndrome | 1 | Feb 12, 2020 |
| Werner syndrome | 1 | Jan 13, 2021 |
| White-sutton syndrome | 1 | Sep 26, 2019 |
| Wilson disease | 3 | Jan 13, 2021 |
| Wolcott-Rallison dysplasia | 1 | Jan 13, 2021 |
| X-linked DMD-related dystrophinopathy | 1 | Sep 26, 2019 |
| X-linked MED12-related disorder | 2 | Sep 26, 2019 |
| X-linked chondrodysplasia punctata 1 | 1 | Feb 12, 2020 |
| X-linked intellectual disability-hypotonic face syndrome | 1 | Sep 4, 2018 |
| Xeroderma pigmentosum, group C | 1 | Sep 26, 2019 |
| Xia-Gibbs syndrome | 1 | Sep 26, 2019 |
| Yunis-Varon syndrome | 1 | Sep 26, 2019 |
| ZNF711-Related X-linked Mental Retardation | 1 | Sep 4, 2018 |
| alpha Thalassemia | 1 | Sep 26, 2019 |
| beta Thalassemia | 1 | Sep 26, 2019 |
| von Willebrand disease type 1 | 1 | Sep 26, 2019 |
