| 3-Methylglutaconic aciduria type 2 | 1 | Jan 13, 2021 |
| 3-methylcrotonyl-CoA carboxylase 2 deficiency | 1 | Jan 13, 2021 |
| 3-methylglutaconic aciduria type 5 | 1 | Jan 13, 2021 |
| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 2 | Sep 26, 2019 |
| 3M syndrome 1 | 2 | Feb 12, 2020 |
| 3M syndrome 3 | 1 | Jan 13, 2021 |
| 46,XY sex reversal 3 | 1 | Sep 26, 2019 |
| 8q24.3 microdeletion syndrome | 1 | Sep 26, 2019 |
| ABCC8-related disorder | 1 | Sep 4, 2018 |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 2 | Feb 12, 2020 |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 1 | Sep 26, 2019 |
| Achondroplasia | 1 | Jan 13, 2021 |
| Achromatopsia 2 | 3 | Sep 26, 2019 |
| Achromatopsia 7 | 2 | Sep 26, 2019 |
| Acral peeling skin syndrome | 1 | Feb 12, 2020 |
| Acrocapitofemoral dysplasia | 2 | Sep 26, 2019 |
| Acrofacial dysostosis Cincinnati type | 1 | Sep 4, 2018 |
| Actin accumulation myopathy | 1 | Feb 12, 2020 |
| Action myoclonus-renal failure syndrome | 1 | Jan 13, 2021 |
| Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | 1 | Sep 26, 2019 |
| Adams-Oliver syndrome 6 | 1 | Sep 26, 2019 |
| Adenosine kinase deficiency | 1 | Sep 26, 2019 |
| 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 |
| 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, 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 |
| Argininosuccinate lyase deficiency | 1 | Sep 26, 2019 |
| Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 2 | Feb 12, 2020 |
| Arrhythmogenic right ventricular dysplasia 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 1, neurogenic, with myelin defect | 1 | Sep 26, 2019 |
| Arthrogryposis, distal, type 1B | 1 | Sep 4, 2018 |
| Arthrogryposis, distal, type 2B3 | 1 | Feb 12, 2020 |
| Arthrogryposis, distal, with impaired proprioception and touch | 2 | Sep 26, 2019 |
| Ataxia-telangiectasia syndrome | 1 | Sep 26, 2019 |
| Ataxia-telangiectasia-like disorder 1 | 2 | Sep 26, 2019 |
| Autism, susceptibility to, 17 | 1 | Feb 12, 2020 |
| Autosomal dominant KCNQ1-related disease | 2 | Sep 26, 2019 |
| Autosomal dominant MYH7-related disorder | 1 | Sep 26, 2019 |
| Autosomal dominant Robinow syndrome 3 | 1 | Sep 26, 2019 |
| Autosomal dominant SCN1A-related disorder | 1 | Sep 26, 2019 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 1 | Feb 12, 2020 |
| Autosomal dominant nocturnal frontal lobe epilepsy 4 | 1 | Sep 26, 2019 |
| Autosomal dominant nonsyndromic hearing loss 1 | 1 | Feb 12, 2020 |
| Autosomal dominant nonsyndromic hearing loss 11 | 1 | Sep 26, 2019 |
| Autosomal dominant nonsyndromic hearing loss 22 | 1 | Sep 26, 2019 |
| Autosomal dominant nonsyndromic hearing loss 65 | 1 | Sep 26, 2019 |
| Autosomal recessive AGK-related phenotype | 1 | Sep 26, 2019 |
| Autosomal recessive ataxia due to ubiquinone deficiency | 2 | 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 2B | 1 | Sep 26, 2019 |
| Autosomal recessive distal spinal muscular atrophy 1 | 1 | Sep 26, 2019 |
| Autosomal recessive early-onset Parkinson disease 6 | 1 | Sep 26, 2019 |
| Autosomal recessive early-onset Parkinson disease 7 | 1 | Feb 12, 2020 |
| Autosomal recessive inherited pseudoxanthoma elasticum | 1 | Feb 12, 2020 |
| Autosomal recessive limb-girdle muscular dystrophy type 2I | 2 | Sep 26, 2019 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 2 | Sep 26, 2019 |
| Autosomal recessive limb-girdle muscular dystrophy type R18 | 2 | Sep 26, 2019 |
| Autosomal recessive multiple pterygium syndrome | 1 | Sep 26, 2019 |
| Autosomal recessive nonsyndromic hearing loss 23 | 1 | Jan 13, 2021 |
| Autosomal recessive nonsyndromic hearing loss 28 | 1 | Feb 12, 2020 |
| Autosomal recessive nonsyndromic hearing loss 3 | 2 | Sep 26, 2019 |
| Autosomal recessive nonsyndromic hearing loss 8 | 2 | Jan 13, 2021 |
| Autosomal recessive nonsyndromic hearing loss 9 | 1 | Apr 11, 2018 |
| Autosomal recessive osteopetrosis 1 | 1 | Sep 26, 2019 |
| Autosomal recessive polycystic kidney disease | 3 | Sep 26, 2019 |
| Autosomal recessive spinocerebellar ataxia 15 | 2 | Sep 26, 2019 |
| Autosomal recessive spinocerebellar ataxia 17 | 1 | Sep 26, 2019 |
| Autosomal recessive spinocerebellar ataxia 18 | 1 | Sep 26, 2019 |
| Autosomal recessive spinocerebellar ataxia 20 | 2 | Sep 26, 2019 |
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 | 1 | Feb 12, 2020 |
| 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 |
| 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 syndrome | 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 |
| Brain-lung-thyroid syndrome | 1 | Jan 13, 2021 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 1 | Jan 13, 2021 |
| C1Q deficiency | 2 | Feb 12, 2020 |
| CBL-related disorder | 2 | Feb 12, 2020 |
| CHARGE association | 2 | Sep 26, 2019 |
| CNTNAP1-related disease | 1 | Sep 26, 2019 |
| CODAS syndrome | 1 | Sep 26, 2019 |
| COG5-congenital disorder of glycosylation | 1 | Sep 4, 2018 |
| 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 | 1 | Sep 26, 2019 |
| Cardiomyopathy, familial hypertrophic 27 | 1 | Jan 13, 2021 |
| Carnitine palmitoyl transferase II deficiency, neonatal form | 1 | Jan 13, 2021 |
| Carnitine palmitoyl transferase II deficiency, severe infantile form | 1 | Sep 26, 2019 |
| Cataract 17 multiple types | 1 | Feb 12, 2020 |
| Cataract 36 | 1 | Sep 26, 2019 |
| Cataract 41 | 1 | Sep 4, 2018 |
| Catecholaminergic polymorphic ventricular tachycardia 3 | 1 | Feb 12, 2020 |
| Centra precocious puberty 1 | 1 | Sep 26, 2019 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 | 2 | Sep 26, 2019 |
| Cerebellar ataxia-hypogonadism syndrome | 1 | Sep 26, 2019 |
| Cerebral cavernous malformation | 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 |
| Ceroid lipofuscinosis, neuronal, 6A | 1 | Sep 26, 2019 |
| Charcot-Marie-Tooth disease axonal type 2K | 1 | Sep 26, 2019 |
| Charcot-Marie-Tooth disease type 4B1 | 2 | Jan 13, 2021 |
| Charcot-Marie-Tooth disease type 4D | 1 | Sep 26, 2019 |
| Charcot-Marie-Tooth disease type 4F | 1 | Sep 26, 2019 |
| Charlevoix-Saguenay spastic ataxia | 1 | Jan 13, 2021 |
| Child syndrome | 1 | Sep 26, 2019 |
| Cholestasis, progressive familial intrahepatic, 4 | 1 | Sep 26, 2019 |
| Chromosome 2q32-q33 deletion syndrome | 1 | Feb 12, 2020 |
| Chronic infantile neurological, cutaneous and articular syndrome | 1 | Feb 12, 2020 |
| Chédiak-Higashi syndrome | 1 | Feb 12, 2020 |
| 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 type 2 | 1 | Sep 26, 2019 |
| Coenzyme Q10 deficiency, primary, 1 | 1 | Apr 11, 2018 |
| Coffin-Siris syndrome 1 | 6 | Jan 13, 2021 |
| Cohen syndrome | 2 | Sep 26, 2019 |
| Cold-induced sweating syndrome 1 | 1 | Jan 13, 2021 |
| Colobomatous microphthalmia-rhizomelic dysplasia syndrome | 1 | Sep 26, 2019 |
| 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 immunodeficiency due to DOCK8 deficiency | 1 | Sep 26, 2019 |
| Combined immunodeficiency due to LRBA deficiency | 2 | Jan 13, 2021 |
| Combined oxidative phosphorylation defect type 11 | 1 | Sep 26, 2019 |
| Combined oxidative phosphorylation defect type 14 | 1 | Sep 26, 2019 |
| Combined oxidative phosphorylation defect type 17 | 2 | Sep 26, 2019 |
| Combined oxidative phosphorylation defect type 23 | 1 | Sep 26, 2019 |
| Complement component 6 deficiency | 1 | Sep 26, 2019 |
| Complex cortical dysplasia with other brain malformations 3 | 1 | Sep 26, 2019 |
| Complex cortical dysplasia with other brain malformations 5 | 1 | Sep 26, 2019 |
| Complex cortical dysplasia with other brain malformations 7 | 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 | 1 | Feb 12, 2020 |
| Congenital bile acid synthesis defect 2 | 1 | Sep 26, 2019 |
| Congenital diarrhea 5 with tufting enteropathy | 1 | Sep 4, 2018 |
| 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 cornea | 1 | Jan 13, 2021 |
| Congenital hypotrichosis with juvenile macular dystrophy | 1 | Sep 26, 2019 |
| Congenital isolated adrenocorticotropic hormone deficiency | 2 | Feb 12, 2020 |
| Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 2 | Sep 26, 2019 |
| Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | 3 | Jan 13, 2021 |
| Congenital microvillous atrophy | 2 | Jan 13, 2021 |
| Congenital myopathy with internal nuclei and atypical cores | 1 | Sep 26, 2019 |
| Congenital secretory diarrhea, chloride type | 1 | Sep 26, 2019 |
| Congenital secretory sodium diarrhea 8 | 1 | Sep 4, 2018 |
| Cornelia de Lange syndrome 1 | 1 | Jan 13, 2021 |
| Cornelia de Lange syndrome 5 | 1 | Sep 26, 2019 |
| Cortical dysplasia-focal epilepsy syndrome | 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 7 | 1 | Jan 13, 2021 |
| Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | 1 | Sep 26, 2019 |
| Cutis laxa, autosomal recessive, type 1B | 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-congenital disorder of glycosylation | 1 | Sep 26, 2019 |
| 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, 11 | 1 | Jan 13, 2021 |
| Developmental and epileptic encephalopathy, 18 | 1 | Sep 4, 2018 |
| Developmental and epileptic encephalopathy, 19 | 1 | Sep 26, 2019 |
| Developmental and epileptic encephalopathy, 2 | 1 | Sep 26, 2019 |
| Developmental and epileptic encephalopathy, 25 | 2 | Sep 26, 2019 |
| Developmental and epileptic encephalopathy, 26 | 2 | Feb 12, 2020 |
| Developmental and epileptic encephalopathy, 27 | 2 | Feb 12, 2020 |
| Developmental and epileptic encephalopathy, 32 | 2 | Sep 26, 2019 |
| 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, 7 | 1 | Sep 26, 2019 |
| Developmental and epileptic encephalopathy, 76 | 1 | Feb 12, 2020 |
| Developmental and epileptic encephalopathy, 77 | 1 | Jan 13, 2021 |
| Developmental and epileptic encephalopathy, 8 | 1 | Sep 4, 2018 |
| Developmental delay with short stature, dysmorphic facial features, and sparse hair | 1 | Jan 13, 2021 |
| Diabetes insipidus, nephrogenic, autosomal | 1 | Feb 12, 2020 |
| Diamond-Blackfan anemia 7 | 1 | Jan 13, 2021 |
| Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | 1 | Feb 12, 2020 |
| Dilated cardiomyopathy 1A | 1 | Feb 12, 2020 |
| Dilated cardiomyopathy 1S | 2 | Sep 26, 2019 |
| Distal arthrogryposis type 5D | 2 | Feb 12, 2020 |
| Dubin-Johnson syndrome | 1 | Sep 4, 2018 |
| ELN-related disorder | 1 | Sep 4, 2018 |
| Early myoclonic encephalopathy | 1 | Sep 26, 2019 |
| Early-onset myopathy with fatal cardiomyopathy | 1 | Jan 13, 2021 |
| Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | 2 | Sep 26, 2019 |
| Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | 1 | Feb 12, 2020 |
| Ehlers-Danlos syndrome, classic type | 1 | Sep 26, 2019 |
| Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | 1 | Jan 13, 2021 |
| 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-hypertrophic cardiomyopathy-renal tubular disease syndrome | 1 | Sep 26, 2019 |
| Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | 1 | Jan 13, 2021 |
| Epilepsy, childhood absence, susceptibility to, 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, idiopathic generalized, susceptibility to, 10 | 1 | Sep 4, 2018 |
| Epileptic encephalopathy | 1 | Sep 4, 2018 |
| Epsilon-trimethyllysine hydroxylase deficiency | 1 | Feb 12, 2020 |
| Ethylmalonic encephalopathy | 1 | Sep 26, 2019 |
| Exostoses, multiple, type 1 | 1 | Sep 26, 2019 |
| Exudative vitreoretinopathy 1 | 1 | Sep 26, 2019 |
| Exudative vitreoretinopathy 7 | 1 | Jan 13, 2021 |
| Factor 5 and Factor VIII, combined deficiency of, 2 | 1 | Sep 26, 2019 |
| Familial Mediterranean fever, autosomal dominant | 3 | Jan 13, 2021 |
| 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 hemophagocytic lymphohistiocytosis 5 | 1 | Sep 26, 2019 |
| Familial hypocalciuric hypercalcemia 3 | 1 | Jan 13, 2021 |
| Familial temporal lobe epilepsy 7 | 1 | Jan 13, 2021 |
| 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 |
| Fatty acyl-CoA reductase 1 deficiency | 1 | Sep 26, 2019 |
| 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 3A | 2 | Sep 26, 2019 |
| Glucocorticoid deficiency 1 | 1 | Jan 13, 2021 |
| Glucocorticoid deficiency 4 | 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 |
| Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2 | Jan 13, 2021 |
| Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | 1 | Sep 26, 2019 |
| 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 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 | 2 | Jan 13, 2021 |
| 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 |
| Hearing loss, autosomal recessive 111 | 1 | Jan 13, 2021 |
| Heart and brain malformation syndrome | 1 | Sep 4, 2018 |
| Hemochromatosis type 2A | 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 spastic paraplegia 28 | 1 | Sep 26, 2019 |
| Hereditary spastic paraplegia 3A | 1 | Sep 26, 2019 |
| Hereditary spastic paraplegia 4 | 1 | Sep 26, 2019 |
| Hereditary spastic paraplegia 56 | 1 | Sep 4, 2018 |
| Hereditary spherocytosis type 3 | 1 | Sep 26, 2019 |
| Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | 1 | Sep 26, 2019 |
| Hermansky-Pudlak syndrome 5 | 1 | Sep 26, 2019 |
| Heterotopia, periventricular, X-linked dominant | 1 | Sep 26, 2019 |
| High myopia-sensorineural deafness syndrome | 1 | Sep 4, 2018 |
| 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, nonsyndromic, autosomal recessive 2 | 3 | Jan 13, 2021 |
| Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome | 1 | Sep 4, 2018 |
| Hypercholesterolemia, familial, 1 | 5 | Feb 12, 2020 |
| Hyperglycinuria | 1 | Sep 4, 2018 |
| Hyperphenylalaninemia due to DNAJC12 deficiency | 1 | Sep 26, 2019 |
| Hyperphosphatasia with intellectual disability syndrome 4 | 1 | Sep 26, 2019 |
| Hypogonadotropic hypogonadism 3 with or without anosmia | 2 | Jan 13, 2021 |
| Hypoinsulinemic hypoglycemia and body hemihypertrophy | 1 | Jan 13, 2021 |
| Hypomyelinating leukodystrophy 10 | 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 |
| Hypouricemia, renal, 2 | 1 | Sep 26, 2019 |
| INSR-related disorder | 1 | Sep 26, 2019 |
| ISPD-Related Disorder | 1 | Sep 26, 2019 |
| Imerslund-Grasbeck syndrome | 1 | Sep 26, 2019 |
| Immunodeficiency 57 | 1 | Sep 26, 2019 |
| Immunodeficiency, common variable, 2 | 1 | Jan 13, 2021 |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | 1 | Sep 26, 2019 |
| Infantile GM1 gangliosidosis | 1 | Sep 26, 2019 |
| Infantile bilateral striatal necrosis | 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 |
| Inherited glutathione synthetase deficiency | 1 | Sep 26, 2019 |
| 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 101 | 1 | Sep 26, 2019 |
| Intellectual disability, X-linked 93 | 1 | Sep 26, 2019 |
| Intellectual disability, X-linked 97 | 1 | Sep 4, 2018 |
| Intellectual disability, X-linked 99 | 1 | Sep 4, 2018 |
| Intellectual disability, X-linked syndromic, Turner type | 1 | Feb 12, 2020 |
| Intellectual disability, autosomal dominant 13 | 1 | Sep 26, 2019 |
| Intellectual disability, autosomal dominant 14 | 1 | Jan 13, 2021 |
| Intellectual disability, autosomal dominant 24 | 1 | Sep 4, 2018 |
| Intellectual disability, autosomal dominant 34 | 1 | Sep 4, 2018 |
| Intellectual disability, autosomal dominant 39 | 1 | Sep 4, 2018 |
| Intellectual disability, autosomal dominant 40 | 1 | Sep 4, 2018 |
| Intellectual disability, autosomal dominant 45 | 1 | Sep 26, 2019 |
| Intellectual disability, autosomal dominant 5 | 1 | Sep 26, 2019 |
| Intellectual disability, autosomal dominant 50 | 1 | Sep 26, 2019 |
| Intellectual disability, autosomal dominant 52 | 1 | Sep 26, 2019 |
| Intellectual disability, autosomal dominant 6 | 1 | Jan 13, 2021 |
| Intellectual disability, autosomal recessive 13 | 1 | Sep 26, 2019 |
| Intellectual disability, autosomal recessive 27 | 1 | Sep 26, 2019 |
| Intellectual disability, autosomal recessive 3 | 2 | Feb 12, 2020 |
| Intellectual disability, autosomal recessive 5 | 1 | Feb 12, 2020 |
| Intellectual disability, autosomal recessive 7 | 1 | Jan 13, 2021 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 1 | Sep 26, 2019 |
| Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 1 | Sep 4, 2018 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 1 | Sep 26, 2019 |
| Intellectual disability-strabismus syndrome | 1 | Sep 26, 2019 |
| Interstitial lung disease due to ABCA3 deficiency | 1 | Jan 13, 2021 |
| Iodotyrosyl coupling defect | 1 | Feb 12, 2020 |
| Isolated microphthalmia 2 | 1 | Jan 13, 2021 |
| 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 |
| Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome | 1 | Jan 13, 2021 |
| KBG syndrome | 2 | Jan 13, 2021 |
| KCNQ2-Related Disorders | 1 | Apr 11, 2018 |
| Kabuki syndrome 1 | 1 | Feb 12, 2020 |
| Kartagener syndrome | 1 | Jan 13, 2021 |
| Ketoacidosis due to monocarboxylate transporter-1 deficiency | 1 | Sep 26, 2019 |
| Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | 2 | Sep 26, 2019 |
| Knobloch syndrome | 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 |
| Landau-Kleffner syndrome | 1 | Sep 26, 2019 |
| 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 |
| Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome | 1 | Jan 13, 2021 |
| Leukodystrophy, hypomyelinating, 15 | 1 | Sep 26, 2019 |
| Li-Fraumeni syndrome 1 | 1 | Feb 12, 2020 |
| Lipase deficiency, combined | 1 | Jan 13, 2021 |
| Lissencephaly 4 | 1 | Sep 26, 2019 |
| Lissencephaly 9 with complex brainstem malformation | 1 | Feb 12, 2020 |
| Lissencephaly due to TUBA1A mutation | 4 | Jan 13, 2021 |
| Loeys-Dietz syndrome 2 | 1 | Sep 4, 2018 |
| Long QT syndrome 1 | 2 | Jan 13, 2021 |
| MAP3K7-related disorder | 1 | Sep 26, 2019 |
| MHC class II deficiency | 6 | Jan 13, 2021 |
| 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 |
| Marfan syndrome | 2 | Feb 12, 2020 |
| Maturity-onset diabetes of the young type 8 | 2 | Feb 12, 2020 |
| Meckel syndrome, type 11 | 1 | Sep 4, 2018 |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 1 | Jan 13, 2021 |
| Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency | 1 | Sep 26, 2019 |
| Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency | 1 | Jan 13, 2021 |
| 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 |
| Methylmalonic aciduria, cblA type | 1 | Feb 12, 2020 |
| Microcephalic osteodysplastic primordial dwarfism type II | 1 | Sep 26, 2019 |
| Microcephalic primordial dwarfism due to ZNF335 deficiency | 1 | Sep 26, 2019 |
| Microcephalic primordial dwarfism, Alazami type | 2 | Sep 26, 2019 |
| Microcephaly 1, primary, autosomal recessive | 1 | Jan 13, 2021 |
| Microcephaly 17, primary, autosomal recessive | 3 | Sep 26, 2019 |
| Microcephaly 4, primary, autosomal recessive | 2 | Jan 13, 2021 |
| Microcephaly 5, primary, autosomal recessive | 6 | Jan 13, 2021 |
| Microcephaly 9, primary, autosomal recessive | 1 | Sep 26, 2019 |
| Microcephaly and chorioretinopathy 1 | 1 | Jan 13, 2021 |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 2 | Jan 13, 2021 |
| Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome | 1 | Sep 26, 2019 |
| Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | 1 | Jan 13, 2021 |
| Microcytic anemia with liver iron overload | 1 | Sep 26, 2019 |
| Microphthalmia, syndromic 12 | 1 | Sep 26, 2019 |
| Mismatch repair cancer syndrome 1 | 3 | Feb 12, 2020 |
| Mitochondrial DNA depletion syndrome 1 | 1 | Feb 12, 2020 |
| Mitochondrial DNA depletion syndrome 13 | 1 | Sep 26, 2019 |
| Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | 1 | Sep 26, 2019 |
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 1 | Jan 13, 2021 |
| 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 |
| 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 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 A1 | 1 | Sep 26, 2019 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 | 1 | Jan 13, 2021 |
| Myoclonic-astatic epilepsy | 1 | Feb 12, 2020 |
| Myopathy, centronuclear, 5 | 1 | Sep 26, 2019 |
| Nemaline myopathy 2 | 1 | Sep 26, 2019 |
| Nemaline myopathy 7 | 1 | Sep 26, 2019 |
| 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 2 | 1 | Jan 13, 2021 |
| 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, neuropathy, and deafness | 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 with progressive spasticity and brain white matter abnormalities | 1 | Sep 26, 2019 |
| 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 8 | 2 | Sep 26, 2019 |
| Neuronopathy, distal hereditary motor, type 2D | 1 | Feb 12, 2020 |
| Neuropathy, hereditary sensory and autonomic, type 2B | 1 | Sep 26, 2019 |
| Neutropenia, severe congenital, 8, autosomal dominant | 1 | Jan 13, 2021 |
| Nicolaides-Baraitser syndrome | 1 | Jan 13, 2021 |
| Niemann-Pick disease, type A | 1 | Sep 26, 2019 |
| Niemann-Pick disease, type C1 | 1 | Jan 13, 2021 |
| 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 |
| Nonsyndromic congenital nail disorder 1 | 1 | Jan 13, 2021 |
| 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 |
| 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 type 14 | 2 | Sep 26, 2019 |
| Osteogenesis imperfecta type 15 | 1 | Sep 4, 2018 |
| Osteogenesis imperfecta type 8 | 2 | Jan 13, 2021 |
| Osteopetrosis with renal tubular acidosis | 1 | Sep 26, 2019 |
| Otofaciocervical syndrome 2 | 1 | Feb 12, 2020 |
| PARS2-related disorder | 1 | Sep 4, 2018 |
| PGM1-congenital disorder of glycosylation | 1 | Sep 26, 2019 |
| PMM2-congenital disorder of glycosylation | 2 | Jan 13, 2021 |
| PTPN11-related disorder | 2 | Sep 4, 2018 |
| Pancreatic agenesis 2 | 1 | Sep 26, 2019 |
| Peeling skin syndrome 6 | 1 | Sep 4, 2018 |
| Pendred syndrome | 2 | Feb 12, 2020 |
| 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 |
| Pitt-Hopkins syndrome | 1 | Jan 13, 2021 |
| Platelet-type bleeding disorder 16 | 1 | Feb 12, 2020 |
| Poikiloderma with neutropenia | 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 type 1 | 2 | Jan 13, 2021 |
| Polyhydramnios, megalencephaly, and symptomatic epilepsy | 1 | Sep 26, 2019 |
| Polymicrogyria with optic nerve hypoplasia | 1 | Sep 4, 2018 |
| Pontocerebellar hypoplasia, type 1D | 1 | Jan 13, 2021 |
| Porencephaly 2 | 1 | Feb 12, 2020 |
| Primary ciliary dyskinesia 15 | 2 | Jan 13, 2021 |
| Primary ciliary dyskinesia 29 | 1 | Sep 26, 2019 |
| Primary ciliary dyskinesia 3 | 3 | Jan 13, 2021 |
| Primary ciliary dyskinesia 35 | 1 | Sep 26, 2019 |
| Primary failure of tooth eruption | 1 | Sep 4, 2018 |
| Primary hyperoxaluria, type I | 1 | Jan 13, 2021 |
| Primary hypomagnesemia | 1 | Sep 4, 2018 |
| Progressive bulbar palsy of childhood | 1 | Sep 26, 2019 |
| Progressive familial intrahepatic cholestasis type 1 | 1 | Sep 26, 2019 |
| Progressive familial intrahepatic cholestasis type 2 | 3 | Sep 26, 2019 |
| Progressive familial intrahepatic cholestasis type 3 | 1 | Apr 11, 2018 |
| Progressive myoclonic epilepsy type 3 | 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 |
| Proximal myopathy with extrapyramidal signs | 1 | Sep 26, 2019 |
| Pseudo-TORCH syndrome 1 | 1 | Sep 26, 2019 |
| Pseudo-TORCH syndrome 2 | 1 | Jan 13, 2021 |
| Pulmonary hypertension, primary, 4 | 1 | Sep 4, 2018 |
| Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | 1 | Sep 26, 2019 |
| Pyruvate dehydrogenase E1-alpha deficiency | 2 | Feb 12, 2020 |
| Pyruvate dehydrogenase E3 deficiency | 2 | Sep 26, 2019 |
| Question mark ears, isolated | 1 | Sep 4, 2018 |
| RFT1-congenital disorder of glycosylation | 1 | Feb 12, 2020 |
| Radial aplasia-thrombocytopenia syndrome | 1 | Jan 13, 2021 |
| Rafiq syndrome | 1 | Sep 26, 2019 |
| Renal carnitine transport defect | 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 |
| Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | 1 | Sep 4, 2018 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 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 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 1 | Sep 26, 2019 |
| Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | 1 | Sep 26, 2019 |
| Severe intellectual disability-progressive spastic diplegia syndrome | 2 | 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 | Sep 26, 2019 |
| Spastic ataxia 2 | 1 | Sep 26, 2019 |
| Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | 1 | Sep 4, 2018 |
| Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | 1 | Sep 26, 2019 |
| Sphingolipid activator protein 1 deficiency | 1 | Sep 26, 2019 |
| Split hand-foot malformation 6 | 1 | Apr 11, 2018 |
| Spondylo-ocular syndrome | 1 | Sep 26, 2019 |
| 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 |
| Spondyloperipheral dysplasia | 1 | Sep 26, 2019 |
| Succinyl-CoA acetoacetate transferase deficiency | 2 | Feb 12, 2020 |
| Sulfite oxidase deficiency | 1 | Sep 26, 2019 |
| Syndromic X-linked intellectual disability 94 | 1 | Sep 26, 2019 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 1 | Sep 4, 2018 |
| Syndromic X-linked intellectual disability Najm type | 1 | Sep 4, 2018 |
| Syndromic X-linked intellectual disability Snyder type | 1 | Sep 26, 2019 |
| Systemic mast cell disease | 1 | Sep 4, 2018 |
| TCF12-related craniosynostosis | 1 | Jan 13, 2021 |
| TFRC-related combined immunodeficiency | 1 | Sep 26, 2019 |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | 1 | Feb 12, 2020 |
| TTN-Related Disorders | 1 | Sep 26, 2019 |
| TWIST1-related disorder | 1 | Sep 26, 2019 |
| Tall stature-intellectual disability-renal anomalies syndrome | 1 | Sep 26, 2019 |
| Tatton-Brown-Rahman overgrowth syndrome | 1 | Feb 12, 2020 |
| Tay-Sachs disease, variant AB | 1 | Sep 26, 2019 |
| Temtamy syndrome | 2 | Sep 26, 2019 |
| Thrombocythemia 1 | 1 | Sep 26, 2019 |
| Thrombocytopenia 2 | 2 | Jan 13, 2021 |
| Thrombocytopenia, anemia, and myelofibrosis | 2 | Jan 13, 2021 |
| Thrombophilia due to protein C deficiency, autosomal recessive | 1 | Sep 26, 2019 |
| Thrombophilia, X-linked, due to factor 9 defect | 1 | Feb 12, 2020 |
| 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 |
| Tyrosinase-negative oculocutaneous albinism | 1 | Sep 26, 2019 |
| Tyrosinase-positive oculocutaneous albinism | 1 | Sep 26, 2019 |
| Ullrich congenital muscular dystrophy 1A | 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 |
| Vanishing white matter disease | 2 | Sep 26, 2019 |
| Vasculitis due to ADA2 deficiency | 1 | Sep 26, 2019 |
| Very long chain acyl-CoA dehydrogenase deficiency | 5 | Jan 13, 2021 |
| Vici syndrome | 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 |
| Wilson disease | 3 | Jan 13, 2021 |
| Wolcott-Rallison dysplasia | 1 | Jan 13, 2021 |
| Woodhouse-Sakati syndrome | 1 | Sep 26, 2019 |
| 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-cerebellar hypoplasia syndrome | 1 | Jan 13, 2021 |
| X-linked intellectual disability-short stature-overweight syndrome | 1 | Sep 4, 2018 |
| Xeroderma pigmentosum, group C | 1 | Sep 26, 2019 |
| Yunis-Varon syndrome | 1 | Sep 26, 2019 |
| alpha Thalassemia | 1 | Sep 26, 2019 |
| beta Thalassemia | 1 | Sep 26, 2019 |
| von Willebrand disease type 1 | 1 | Sep 26, 2019 |
