| 3-Methylglutaconic aciduria type 2 | 2 | Mar 21, 2025 |
| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 1 | Sep 19, 2023 |
| 3-methylglutaconic aciduria, type VIIB | 1 | Oct 15, 2021 |
| 3M syndrome 1 | 2 | Jul 31, 2020 |
| 8q24.3 microdeletion syndrome | 1 | Oct 15, 2021 |
| AARS-related disorder | 1 | Sep 19, 2023 |
| ABCB4-related disorder | 1 | Sep 19, 2023 |
| ABCC8-related disorder | 5 | Mar 21, 2025 |
| ABCC9-related disorder | 2 | Sep 19, 2023 |
| ACAN-related disorder | 1 | Mar 21, 2025 |
| ACOX1-related disorder | 1 | Oct 15, 2021 |
| ACTA1-related myopathies | 4 | Mar 21, 2025 |
| ACTB-related disorder | 1 | Mar 21, 2025 |
| ACTN2-related disorder | 1 | Jul 31, 2020 |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 1 | Jul 31, 2020 |
| ALDH18A1-related de Barsy syndrome | 1 | Sep 20, 2019 |
| ALG1-congenital disorder of glycosylation | 1 | Sep 19, 2023 |
| ALG12-congenital disorder of glycosylation | 1 | Jul 31, 2020 |
| ALPK3-related disorder | 1 | Sep 19, 2023 |
| ALPL-related disorder | 1 | Sep 19, 2023 |
| ANO5 Muscle Disease | 1 | Mar 21, 2025 |
| APOB-related disorder | 1 | Sep 19, 2023 |
| ARFGEF1-related disorder | 1 | Oct 14, 2021 |
| ARID1B-related disorder | 2 | Mar 21, 2025 |
| ARX-related disorder | 1 | Mar 21, 2025 |
| ASXL1-related disorder | 1 | Sep 19, 2023 |
| ATM-related disorder | 4 | Mar 21, 2025 |
| ATN1-related disorder | 1 | Sep 19, 2023 |
| ATP1A2-related disorder | 2 | Mar 21, 2025 |
| ATP1A3-related disorder | 2 | Sep 19, 2023 |
| ATP2B2-related disorder | 2 | Mar 21, 2025 |
| ATP8B1-related disorder | 1 | Oct 15, 2021 |
| ATTRV122I amyloidosis | 1 | Sep 20, 2019 |
| AXIN2-related disorder | 1 | Sep 19, 2023 |
| Actin accumulation myopathy | 2 | Sep 20, 2019 |
| Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | 2 | Mar 21, 2025 |
| Adenosine kinase deficiency | 2 | Sep 19, 2023 |
| Adrenoleukodystrophy | 1 | Sep 19, 2023 |
| Aicardi-Goutieres syndrome 1 | 1 | Sep 20, 2019 |
| Aldosterone Synthase Deficiency | 1 | Mar 21, 2025 |
| Alexander disease | 1 | Sep 19, 2023 |
| Allan-Herndon-Dudley syndrome | 1 | Mar 21, 2025 |
| Alpha thalassemia-X-linked intellectual disability syndrome | 2 | Sep 19, 2023 |
| Alpha-1-antitrypsin deficiency | 1 | Mar 21, 2025 |
| Alport syndrome | 1 | Dec 28, 2021 |
| Alstrom syndrome | 2 | Sep 20, 2019 |
| Alternating hemiplegia of childhood 2 | 3 | Sep 20, 2019 |
| Alveolar capillary dysplasia with pulmonary venous misalignment | 7 | Mar 21, 2025 |
| Amish lethal microcephaly | 2 | Sep 20, 2019 |
| Amyloidosis, hereditary systemic 1 | 1 | Mar 21, 2025 |
| Anemia | 1 | Sep 20, 2019 |
| Anemia, congenital dyserythropoietic, type 1a | 2 | Sep 19, 2023 |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 2 | Mar 21, 2025 |
| Angelman syndrome | 1 | Sep 19, 2023 |
| Aniridia 1 | 1 | Sep 20, 2019 |
| Aortic aneurysm, familial thoracic 7 | 1 | Sep 20, 2019 |
| Argininosuccinate lyase deficiency | 1 | Sep 20, 2019 |
| Arrhythmogenic right ventricular dysplasia 2 | 1 | Dec 28, 2021 |
| Arrhythmogenic right ventricular dysplasia 8 | 2 | Jul 31, 2020 |
| Arrhythmogenic right ventricular dysplasia 9 | 1 | Sep 19, 2023 |
| Ataxia-telangiectasia syndrome | 1 | Sep 20, 2019 |
| Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly | 1 | Sep 19, 2023 |
| Auriculocondylar syndrome 2 | 1 | Sep 19, 2023 |
| Autoimmune lymphoproliferative syndrome type 1 | 1 | Sep 20, 2019 |
| Autoinflammatory syndrome, familial, Behcet-like | 1 | Sep 19, 2023 |
| Autosomal dominant KAT6B-related disorders | 2 | Jul 31, 2020 |
| Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | 2 | Oct 15, 2021 |
| Autosomal dominant hypocalcemia 1 | 1 | Sep 20, 2019 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 1 | Sep 20, 2019 |
| Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2 | Sep 19, 2023 |
| Autosomal dominant nonsyndromic hearing loss 22 | 1 | Sep 19, 2023 |
| Autosomal dominant nonsyndromic hearing loss 3A | 1 | Sep 20, 2019 |
| Autosomal dominant nonsyndromic hearing loss 6 | 3 | Sep 19, 2023 |
| Autosomal recessive distal spinal muscular atrophy 1 | 3 | Sep 19, 2023 |
| Autosomal recessive multiple pterygium syndrome | 2 | Sep 20, 2019 |
| Autosomal recessive polycystic kidney disease | 4 | Mar 21, 2025 |
| Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | 2 | Sep 20, 2019 |
| Autosomal recessive spinocerebellar ataxia 17 | 2 | Aug 5, 2020 |
| Autosomal systemic lupus erythematosus type 16 | 1 | Sep 19, 2023 |
| Axenfeld-Rieger syndrome type 3 | 1 | Sep 20, 2019 |
| BCOR-related disorder | 1 | Oct 15, 2021 |
| BMPR1A-Related Polyposis Syndrome | 1 | Mar 21, 2025 |
| BMPR2-related disorder | 1 | Jul 14, 2023 |
| BRAT1-associated neurodegenerative disorder | 1 | Jul 31, 2020 |
| BRAT1-related disorder | 2 | Sep 19, 2023 |
| BRCA1-related disorder | 3 | Mar 21, 2025 |
| BRCA2-related disorder | 8 | Mar 21, 2025 |
| BRIP1-associated familial cancer predisposition | 4 | Sep 19, 2023 |
| BRIP1-related disorder | 1 | Mar 21, 2025 |
| Bailey-Bloch congenital myopathy | 1 | Sep 19, 2023 |
| Baraitser-Winter syndrome 1 | 1 | Oct 15, 2021 |
| Bardet-Biedl syndrome 1 | 1 | Sep 20, 2019 |
| Bardet-Biedl syndrome 10 | 2 | Jul 31, 2020 |
| Bardet-Biedl syndrome 2 | 2 | Jul 31, 2020 |
| Bifunctional peroxisomal enzyme deficiency | 3 | Oct 15, 2021 |
| Biotin-responsive basal ganglia disease | 1 | Oct 15, 2021 |
| Biotinidase deficiency | 2 | Sep 19, 2023 |
| Birt-Hogg-Dube syndrome | 1 | Jul 31, 2020 |
| Bleeding disorder, platelet-type, 21 | 1 | Jul 31, 2020 |
| Bloom syndrome | 1 | Mar 21, 2025 |
| Brain small vessel disease 1 with or without ocular anomalies | 2 | Oct 15, 2021 |
| Breast and colorectal cancer, susceptibility to | 1 | Jul 31, 2020 |
| Breast cancer, susceptibility to | 2 | Sep 19, 2023 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 2 | Sep 20, 2019 |
| Brugada syndrome 1 | 3 | Sep 20, 2019 |
| CACNA1C-related disorder | 2 | Sep 19, 2023 |
| CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL | 2 | Sep 20, 2019 |
| CC2D2A-related disorder | 1 | Sep 19, 2023 |
| CDC42-related disorder | 1 | Sep 19, 2023 |
| CEP290-related disorder | 3 | Mar 21, 2025 |
| CFB-related disorder | 1 | Sep 19, 2023 |
| CFI-related disorder | 3 | Mar 21, 2025 |
| CFTR-related disorder | 5 | Mar 21, 2025 |
| CHARGE syndrome | 13 | Sep 19, 2023 |
| CHD7-related disorder | 2 | Mar 21, 2025 |
| CHD8-related disorder | 1 | Sep 19, 2023 |
| CHEK2-related cancer predisposition | 2 | Mar 21, 2025 |
| CLCN1-related disorder | 1 | Sep 19, 2023 |
| COL11A1-related disorder | 1 | Sep 19, 2023 |
| COL18A1-related disorder | 1 | Sep 19, 2023 |
| COL2A1-related disorder | 1 | Mar 21, 2025 |
| COL2A1-related skeletal dysplasia | 2 | Jul 31, 2020 |
| COL4A1-related disorder | 2 | Sep 19, 2023 |
| COL4A4-related disorder | 1 | Sep 19, 2023 |
| COL5A1-related disorders | 1 | Mar 21, 2025 |
| COL6A2-related disorder | 1 | Mar 21, 2025 |
| COL7A1-related disorder | 3 | Sep 19, 2023 |
| CPOX-related disorder | 1 | Sep 19, 2023 |
| CPT2-related disorder | 1 | Mar 21, 2025 |
| CRB2-related disorder | 1 | Sep 19, 2023 |
| CREBBP-related disorder | 3 | Mar 21, 2025 |
| CTCF-Related Neurodevelopmental Disorder | 1 | Sep 19, 2023 |
| CTNNB1-related disorder | 1 | Sep 19, 2023 |
| Camptomelic dysplasia | 2 | Mar 21, 2025 |
| Capillary malformation-arteriovenous malformation syndrome | 1 | Mar 21, 2025 |
| Cardiac, facial, and digital anomalies with developmental delay | 1 | Sep 19, 2023 |
| Cardiac-urogenital syndrome | 1 | Jul 31, 2020 |
| Cardiomyopathy | 6 | Sep 19, 2023 |
| Cardiomyopathy-hypotonia-lactic acidosis syndrome | 1 | Sep 19, 2023 |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 1 | Dec 28, 2021 |
| Catecholaminergic polymorphic ventricular tachycardia 3 | 1 | Sep 19, 2023 |
| Central core disease, autosomal recessive | 2 | Sep 20, 2019 |
| Central core myopathy | 1 | Sep 20, 2019 |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 1 | Sep 20, 2019 |
| Chudley-McCullough syndrome | 1 | Mar 21, 2025 |
| Citrullinemia | 2 | Sep 19, 2023 |
| Clark-Baraitser syndrome | 1 | Sep 19, 2023 |
| Cockayne syndrome type 2 | 2 | Jul 31, 2020 |
| Coffin-Siris syndrome 1 | 1 | Jul 26, 2017 |
| Coffin-Siris syndrome 6 | 1 | Jul 31, 2020 |
| Combined immunodeficiency due to DOCK8 deficiency | 1 | Sep 19, 2023 |
| Combined immunodeficiency due to LRBA deficiency | 1 | Sep 19, 2023 |
| Combined immunodeficiency, X-linked | 3 | Oct 14, 2021 |
| Complex cortical dysplasia with other brain malformations 5 | 1 | Sep 19, 2023 |
| Complex cortical dysplasia with other brain malformations 7 | 1 | Sep 20, 2019 |
| Congenital Adrenal Insufficiency | 1 | Sep 19, 2023 |
| Congenital adrenal hypoplasia, X-linked | 1 | Sep 19, 2023 |
| Congenital bile acid synthesis defect 1 | 1 | Mar 21, 2025 |
| Congenital central hypoventilation | 2 | Mar 21, 2025 |
| Congenital central hypoventilation syndrome, with or without Hirschsprung disease | 1 | Jul 31, 2020 |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | 1 | Sep 20, 2019 |
| Congenital heart defects, multiple types, 2 | 2 | Sep 19, 2023 |
| Congenital lactase deficiency | 1 | Sep 19, 2023 |
| Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | 1 | Jul 31, 2020 |
| Congenital microvillous atrophy | 2 | Jul 31, 2020 |
| Congenital myasthenic syndrome 18 | 1 | Jul 31, 2020 |
| Congenital myasthenic syndrome 4B | 1 | Sep 20, 2019 |
| Congenital myasthenic syndrome 5 | 1 | Sep 19, 2023 |
| Congenital myasthenic syndrome 8 | 1 | Sep 19, 2023 |
| Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | 1 | Sep 20, 2019 |
| Cornelia de Lange syndrome 1 | 6 | Mar 21, 2025 |
| Cornelia de Lange syndrome 3 | 1 | Jul 31, 2020 |
| Cornelia de Lange syndrome 5 | 1 | Jul 31, 2020 |
| Coronary sclerosis, medial, of infancy | 2 | Sep 20, 2019 |
| Costello syndrome | 1 | Sep 20, 2019 |
| Currarino triad | 1 | Mar 21, 2025 |
| Cystic fibrosis | 3 | Sep 19, 2023 |
| Cystinosis | 1 | Mar 21, 2025 |
| Cystinuria | 1 | Mar 21, 2025 |
| DDX3X-Related Neurodevelopmental Disorder | 1 | Sep 19, 2023 |
| DEPDC5-related disorder | 1 | Jul 14, 2023 |
| DMD-related disorder | 1 | Mar 21, 2025 |
| DNM1-related disorders | 1 | Mar 21, 2025 |
| DNM1L-related disorder | 2 | Sep 19, 2023 |
| DNMT3A-related disorder | 1 | Sep 19, 2023 |
| DSC2-related disorder | 1 | Mar 21, 2025 |
| DSP-related disorder | 3 | Mar 21, 2025 |
| DYRK1A-related disorder | 1 | Oct 14, 2021 |
| De Lange syndrome | 1 | Aug 5, 2020 |
| Deficiency of butyrylcholinesterase | 2 | Mar 21, 2025 |
| Deficiency of malonyl-CoA decarboxylase | 1 | Sep 19, 2023 |
| Deletion syndrome | 1 | Feb 21, 2020 |
| Developmental and epileptic encephalopathy 94 | 4 | Sep 19, 2023 |
| Developmental and epileptic encephalopathy, 11 | 1 | Sep 20, 2019 |
| Developmental and epileptic encephalopathy, 18 | 1 | Sep 19, 2023 |
| Developmental and epileptic encephalopathy, 19 | 1 | Apr 4, 2017 |
| Developmental and epileptic encephalopathy, 26 | 3 | Mar 21, 2025 |
| Developmental and epileptic encephalopathy, 42 | 1 | Sep 20, 2019 |
| Developmental and epileptic encephalopathy, 64 | 1 | Sep 19, 2023 |
| Developmental and epileptic encephalopathy, 7 | 3 | Jul 31, 2020 |
| Developmental and epileptic encephalopathy, 9 | 2 | Dec 28, 2021 |
| Developmental delay, impaired speech, and behavioral abnormalities | 1 | Mar 21, 2025 |
| Diabetes mellitus, transient neonatal, 2 | 1 | Sep 20, 2019 |
| Diamond-Blackfan anemia 6 | 1 | Sep 20, 2019 |
| Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | 1 | Jul 31, 2020 |
| Dilated cardiomyopathy 1A | 1 | Jul 31, 2020 |
| Distal arthrogryposis type 2B1 | 1 | Sep 20, 2019 |
| Distichiasis-lymphedema syndrome | 2 | Sep 19, 2023 |
| Doyne honeycomb retinal dystrophy | 1 | Sep 19, 2023 |
| Dubin-Johnson syndrome | 2 | Sep 20, 2019 |
| Dystonia 28, childhood-onset | 2 | Sep 19, 2023 |
| Dystonic disorder | 2 | Sep 20, 2019 |
| EARS2-related disorder | 1 | Sep 19, 2023 |
| EDA-related disorder | 1 | Sep 19, 2023 |
| EEF1A2-related disorder | 1 | Jul 31, 2020 |
| ENPP1-related disorder | 2 | Mar 21, 2025 |
| EP300-related disorder | 1 | Sep 19, 2023 |
| EPHB4-related disorder | 3 | Sep 19, 2023 |
| ERCC2-related disorder | 1 | Jul 31, 2020 |
| ERCC6-related disorder | 2 | Mar 21, 2025 |
| Early-onset myopathy with fatal cardiomyopathy | 2 | Jul 31, 2020 |
| Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | 3 | Sep 19, 2023 |
| Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | 1 | Sep 19, 2023 |
| Ectodermal dysplasia WNT10A related | 1 | Mar 21, 2025 |
| Ehlers-Danlos syndrome, classic type, 2 | 1 | Sep 19, 2023 |
| Ellis-van Creveld syndrome | 1 | Jul 31, 2020 |
| Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy | 2 | Mar 21, 2025 |
| Epilepsy | 1 | Sep 20, 2019 |
| Epilepsy, benign neonatal, 1, and/or myokymia | 1 | Sep 20, 2019 |
| Epilepsy, early-onset, vitamin B6-dependent | 3 | Sep 19, 2023 |
| Epilepsy, familial focal, with variable foci 2 | 2 | Jul 31, 2020 |
| Epilepsy, idiopathic generalized, susceptibility to, 15 | 1 | Oct 14, 2021 |
| Episodic ataxia type 1 | 1 | Oct 15, 2021 |
| Episodic ataxia type 2 | 1 | Sep 20, 2019 |
| F8-related disorders | 1 | Mar 21, 2025 |
| FBN1-related disorder | 1 | Mar 21, 2025 |
| FBXO11-related disorder | 1 | Mar 21, 2025 |
| FBXW7-related disorder | 1 | Sep 19, 2023 |
| FBXW7-related neurodevelopmental disorder | 1 | Sep 19, 2023 |
| FDXR-related disorder | 1 | Sep 19, 2023 |
| FGFR2-related disorder | 2 | Mar 21, 2025 |
| FGFR3-related disorder | 1 | Sep 19, 2023 |
| FH-related disorder | 2 | Sep 19, 2023 |
| FLG-related disorder | 6 | Mar 21, 2025 |
| FLNA-related disorder | 4 | Sep 19, 2023 |
| FLNC-related disorder | 3 | Mar 21, 2025 |
| FOXG1-related disorder | 1 | Mar 21, 2025 |
| Fabry disease | 1 | Sep 19, 2023 |
| Factor XI deficiency | 1 | Mar 21, 2025 |
| Factor XIII, A subunit, deficiency of | 1 | Sep 14, 2018 |
| Familial hemophagocytic lymphohistiocytosis 2 | 3 | Sep 19, 2023 |
| Familial hemophagocytic lymphohistiocytosis 5 | 1 | Sep 19, 2023 |
| Familial hypercholesterolemia | 10 | Mar 21, 2025 |
| Familial hypokalemia-hypomagnesemia | 2 | Sep 19, 2023 |
| Familial multiple polyposis syndrome | 1 | Sep 19, 2023 |
| Fanconi anemia | 2 | Sep 19, 2023 |
| Finnish congenital nephrotic syndrome | 2 | Mar 21, 2025 |
| Focal dermal hypoplasia | 1 | Sep 20, 2019 |
| G6PD TOMAH | 1 | Sep 20, 2019 |
| GABBR2-related disorder | 1 | Sep 19, 2023 |
| GATA1-related disorder | 2 | Mar 21, 2025 |
| GBA-related disorder | 1 | Sep 19, 2023 |
| GDF1-RELATED DISORDERS | 1 | Sep 19, 2023 |
| GGCX - Related Disorders | 2 | Mar 21, 2025 |
| GJB2-related disorder | 4 | Mar 21, 2025 |
| GJB6-related disorder | 1 | Sep 19, 2023 |
| GLI3-related disorder | 1 | Sep 19, 2023 |
| GNAO1-related disorder | 1 | Oct 15, 2021 |
| GRHL2-related disorder | 1 | Sep 19, 2023 |
| GRIN2B-related disorder | 1 | Mar 21, 2025 |
| Galactosylceramide beta-galactosidase deficiency | 3 | Mar 21, 2025 |
| Gaucher disease | 2 | Sep 19, 2023 |
| Gaucher disease type II | 1 | Sep 20, 2019 |
| Geleophysic dysplasia 1 | 1 | Sep 19, 2023 |
| Genitourinary and/or brain malformation syndrome | 2 | Mar 21, 2025 |
| Glucocorticoid deficiency 1 | 1 | Sep 20, 2019 |
| Glycine encephalopathy | 12 | Mar 21, 2025 |
| Glycogen storage disease, type II | 2 | Mar 21, 2025 |
| Glycogen storage disease, type IV | 3 | Sep 19, 2023 |
| Glycogen storage disease, type V | 2 | Sep 20, 2019 |
| Goldberg-Shprintzen syndrome | 1 | Sep 19, 2023 |
| Gorlin syndrome | 1 | Jul 31, 2020 |
| H3F3A-related disorder | 1 | Sep 19, 2023 |
| HBB-related disorder | 2 | Sep 19, 2023 |
| HCFC1-related disorders | 1 | Mar 21, 2025 |
| HCN1-related disorder | 1 | Sep 19, 2023 |
| HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6 | 1 | Sep 20, 2019 |
| HOXB13-Related Cancer Predisposition | 1 | Mar 21, 2025 |
| HOXB13-related disorder | 1 | Sep 19, 2023 |
| Harel-Yoon syndrome | 1 | Sep 20, 2019 |
| Hb SS disease | 2 | Jul 31, 2020 |
| Heart, malformation of | 1 | Sep 20, 2019 |
| Hemolytic anemia, G6PD deficient (favism) | 1 | Jul 31, 2020 |
| Hemorrhage, intracerebral, susceptibility to | 2 | Oct 15, 2021 |
| Hereditary breast ovarian cancer syndrome | 5 | Sep 19, 2023 |
| Hereditary cancer-predisposing syndrome | 3 | Oct 14, 2021 |
| Hereditary fructosuria | 2 | Sep 19, 2023 |
| Hereditary lymphedema type I | 1 | Sep 20, 2019 |
| Hereditary spastic paraplegia 52 | 1 | Mar 21, 2025 |
| Hereditary spherocytosis type 2 | 1 | Sep 20, 2019 |
| Hereditary von Willebrand disease | 1 | Aug 5, 2020 |
| Heterotaxy, visceral, 5, autosomal | 1 | Jul 31, 2020 |
| Hirschsprung disease | 1 | Sep 20, 2019 |
| Hirschsprung disease, susceptibility to, 1 | 1 | Sep 20, 2019 |
| Hogue-Janssens syndrome 1 | 2 | Jul 31, 2020 |
| Holocarboxylase synthetase deficiency | 2 | Sep 20, 2019 |
| Houge-Janssens syndrome 2 | 1 | Jul 31, 2020 |
| Hyaline fibromatosis syndrome | 2 | Jul 31, 2020 |
| Hypercholesterolemia, autosomal dominant, type B | 1 | Jul 31, 2020 |
| Hypercholesterolemia, familial, 1 | 1 | Sep 20, 2019 |
| Hyperinsulinemic hypoglycemia, familial, 1 | 3 | Aug 5, 2020 |
| Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | 2 | Sep 19, 2023 |
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 1 | Jul 31, 2020 |
| Hypertrophic cardiomyopathy 11 | 1 | Sep 20, 2019 |
| Hypertrophic cardiomyopathy 4 | 4 | Oct 15, 2021 |
| Hypobetalipoproteinemia | 2 | Sep 19, 2023 |
| Hypogonadotropic hypogonadism 3 with or without anosmia | 1 | Sep 19, 2023 |
| Hypokalemic periodic paralysis, type 1 | 1 | Jul 31, 2020 |
| Hypophosphatasia | 2 | Oct 15, 2021 |
| Hypotonia, ataxia, and delayed development syndrome | 1 | Sep 20, 2019 |
| IGHMBP2-related disorder | 2 | Sep 19, 2023 |
| ITPR1-related disorders | 1 | Mar 21, 2025 |
| Ichthyosis prematurity syndrome | 2 | Jul 31, 2020 |
| Idiopathic basal ganglia calcification 1 | 1 | Mar 21, 2025 |
| Immunodeficiency 104 | 2 | Sep 20, 2019 |
| Inborn glycerol kinase deficiency | 1 | Sep 19, 2023 |
| Infantile liver failure syndrome 1 | 1 | Sep 19, 2023 |
| Infantile nephronophthisis | 2 | Sep 19, 2023 |
| Infantile neuroaxonal dystrophy | 2 | Sep 20, 2019 |
| Infantile-onset X-linked spinal muscular atrophy | 1 | Sep 19, 2023 |
| Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 3 | Sep 19, 2023 |
| Intellectual developmental disorder 62 | 1 | Mar 21, 2025 |
| Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism | 1 | Mar 21, 2025 |
| Intellectual disability, X-linked 102 | 1 | Oct 15, 2021 |
| Intellectual disability, X-linked 93 | 2 | Sep 19, 2023 |
| Intellectual disability, X-linked 99 | 1 | Oct 15, 2021 |
| Intellectual disability, autosomal dominant 14 | 2 | Jul 31, 2020 |
| Intellectual disability, autosomal dominant 43 | 1 | Sep 19, 2023 |
| Intellectual disability, autosomal dominant 45 | 1 | Jul 31, 2020 |
| Intellectual disability, autosomal dominant 5 | 1 | Sep 20, 2019 |
| Intellectual disability, autosomal dominant 51 | 1 | Jul 31, 2020 |
| Intellectual disability, autosomal dominant 52 | 1 | Oct 14, 2021 |
| Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome | 1 | Jul 31, 2020 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 2 | Mar 21, 2025 |
| Interstitial lung disease due to ABCA3 deficiency | 2 | Jul 31, 2020 |
| JAG1-related disorder | 2 | Sep 19, 2023 |
| Joubert syndrome 14 | 2 | Sep 20, 2019 |
| Joubert syndrome 15 | 2 | Sep 20, 2019 |
| Joubert syndrome 17 | 2 | Jul 31, 2020 |
| Joubert syndrome 27 | 1 | Jul 31, 2020 |
| KARS-related disorder | 1 | Jul 31, 2020 |
| KAT6B-related disorder | 2 | Sep 19, 2023 |
| KBG syndrome | 3 | Sep 19, 2023 |
| KCNC1-related disorder | 1 | Mar 21, 2025 |
| KCNH1-related disorder | 1 | Sep 19, 2023 |
| KCNH2-related disorder | 3 | Mar 21, 2025 |
| KCNJ11-related disorder | 2 | Sep 19, 2023 |
| KCNQ1-related disorder | 8 | Mar 21, 2025 |
| KCNQ2-related disorder | 12 | Mar 21, 2025 |
| KDM6B-related disorder | 1 | Mar 21, 2025 |
| KIAA0586- Related disorders | 2 | Mar 21, 2025 |
| KIF5A-related disorder | 1 | Sep 19, 2023 |
| KIT-related disorder | 1 | Mar 21, 2025 |
| KLHL7-related disorder | 2 | Sep 19, 2023 |
| KMT2D-related disorder | 3 | Mar 21, 2025 |
| KRAS-related disorder | 1 | Sep 19, 2023 |
| KYNU-related disorder | 2 | Sep 19, 2023 |
| Kabuki syndrome 1 | 7 | Sep 19, 2023 |
| Kabuki syndrome 2 | 3 | Sep 19, 2023 |
| LAMA2-related disorder | 1 | Mar 21, 2025 |
| LARS1-related disorder | 1 | Sep 19, 2023 |
| LMNA-related disorder | 2 | Sep 19, 2023 |
| LRBA deficiency | 1 | Mar 21, 2025 |
| LZTR1-related disorder | 5 | Sep 19, 2023 |
| Left ventricular noncompaction 8 | 1 | Sep 19, 2023 |
| Lethal congenital contracture syndrome 7 | 2 | Sep 20, 2019 |
| Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | 2 | Jul 31, 2020 |
| Leukocyte adhesion deficiency 3 | 1 | Sep 19, 2023 |
| Leukodystrophy, hypomyelinating, 14 | 1 | Oct 15, 2021 |
| Li-Fraumeni syndrome | 1 | Sep 19, 2023 |
| Linear skin defects with multiple congenital anomalies 3 | 1 | Sep 19, 2023 |
| Lissencephaly due to LIS1 mutation | 1 | Sep 19, 2023 |
| Loeys-Dietz syndrome 1 | 1 | Sep 20, 2019 |
| Loeys-Dietz syndrome 2 | 1 | Mar 21, 2025 |
| Long QT syndrome 1 | 1 | Sep 20, 2019 |
| Lowry-Wood syndrome | 2 | Sep 20, 2019 |
| Luscan-Lumish syndrome | 1 | Sep 20, 2019 |
| Lymphatic malformation 12 | 1 | Sep 19, 2023 |
| Lymphatic malformation 7 | 1 | Sep 20, 2019 |
| Lynch syndrome 4 | 1 | Sep 20, 2019 |
| Lynch syndrome 5 | 1 | Oct 15, 2021 |
| MADD-related disorder | 2 | Mar 21, 2025 |
| MAX-related disorder | 1 | Mar 21, 2025 |
| MBTPS2-related disorder | 1 | Mar 21, 2025 |
| MECP2-related disorder | 4 | Sep 19, 2023 |
| MEDNIK syndrome | 1 | Oct 15, 2021 |
| MEF2C Haploinsufficiency Syndrome | 1 | Sep 19, 2023 |
| MEFV-related disorder | 2 | Mar 21, 2025 |
| MITF-related disorder | 1 | Mar 21, 2025 |
| MSH2-related disorder | 2 | Sep 19, 2023 |
| MSH6-related disorder | 3 | Mar 21, 2025 |
| MTM1-related disorder | 1 | Sep 19, 2023 |
| MUTYH-related disorder | 1 | Sep 19, 2023 |
| MYBPC3-related cardiomyopathies | 1 | Oct 15, 2021 |
| MYBPC3-related disorder | 2 | Mar 21, 2025 |
| MYH2-related disorder | 1 | Sep 19, 2023 |
| MYH6-related disorder | 1 | Mar 21, 2025 |
| MYH7-related disorder | 5 | Sep 19, 2023 |
| MYRF-related disorder | 2 | Sep 19, 2023 |
| Malignant hyperthermia, susceptibility to, 1 | 2 | Sep 19, 2023 |
| Mandibulofacial dysostosis-microcephaly syndrome | 2 | Jul 31, 2020 |
| Maple syrup urine disease | 2 | Sep 19, 2023 |
| Maple syrup urine disease type 1A | 1 | Sep 20, 2019 |
| Marfan syndrome | 1 | Sep 19, 2023 |
| Marshall-Smith syndrome | 1 | Sep 20, 2019 |
| Matthew-Wood syndrome | 2 | Jul 31, 2020 |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 1 | Sep 19, 2023 |
| Medulloblastoma | 1 | Aug 29, 2019 |
| Melanoma, cutaneous malignant, susceptibility to, 8 | 1 | Sep 19, 2023 |
| Menkes kinky-hair syndrome | 1 | Jul 31, 2020 |
| Metachromatic leukodystrophy | 2 | Oct 15, 2021 |
| Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | 1 | Sep 20, 2019 |
| Methylcobalamin deficiency type cblG | 1 | Sep 20, 2019 |
| Methylmalonic acidemia | 1 | Sep 19, 2023 |
| Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 5 | Mar 21, 2025 |
| Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | 2 | Oct 15, 2021 |
| Microcephaly 5, primary, autosomal recessive | 1 | Jul 31, 2020 |
| Mitochondrial DNA depletion syndrome 4b | 2 | Oct 15, 2021 |
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 2 | Jul 31, 2020 |
| Mitochondrial complex 1 deficiency, nuclear type 12 | 1 | Aug 5, 2020 |
| Mitochondrial complex I deficiency | 4 | Sep 19, 2023 |
| Mitochondrial complex I deficiency, nuclear type 1 | 1 | Sep 19, 2023 |
| Mitochondrial complex II deficiency, nuclear type 1 | 2 | Sep 20, 2019 |
| Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | 1 | Sep 19, 2023 |
| Mitochondrial myopathy-lactic acidosis-deafness syndrome | 1 | Sep 19, 2023 |
| Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | 2 | Sep 20, 2019 |
| Mowat-Wilson syndrome | 2 | Sep 20, 2019 |
| Mucocutaneous ulceration | 1 | Sep 20, 2019 |
| Mucopolysaccharidosis type 1 | 1 | Oct 15, 2021 |
| Mucopolysaccharidosis, MPS-III-A | 3 | Sep 19, 2023 |
| Mucopolysaccharidosis, MPS-IV-A | 1 | Oct 15, 2021 |
| Muenke syndrome | 1 | Sep 20, 2019 |
| Multiminicore myopathy | 1 | Sep 20, 2019 |
| Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome | 1 | Sep 19, 2023 |
| Multiple epiphyseal dysplasia type 1 | 4 | Sep 20, 2019 |
| Multiple epiphyseal dysplasia type 4 | 1 | Sep 20, 2019 |
| Multiple mitochondrial dysfunctions syndrome 1 | 1 | Oct 15, 2021 |
| Multisystemic smooth muscle dysfunction syndrome | 1 | Jul 31, 2020 |
| Muscular dystrophy-dystroglycanopathy | 1 | Jul 31, 2020 |
| Myoclonic dystonia 11 | 1 | Oct 15, 2021 |
| Myopathy, proximal, and ophthalmoplegia | 1 | Oct 15, 2021 |
| NAA10-related disorder | 1 | Sep 19, 2023 |
| NAD(P)HX dehydratase deficiency | 1 | Jul 31, 2020 |
| NALCN-related disorder | 3 | Mar 21, 2025 |
| NEB-related disorder | 1 | Mar 21, 2025 |
| NF1-related disorder | 1 | Mar 21, 2025 |
| NFIA-related disorder | 1 | Jul 14, 2023 |
| NKX2-1-related disorder | 2 | Mar 21, 2025 |
| NLRP3-related disorder | 1 | Sep 19, 2023 |
| NODAL-related disorder | 1 | Sep 19, 2023 |
| NPHP3-related disorder | 3 | Sep 19, 2023 |
| NR2F2-Releated Disorders | 1 | Mar 21, 2025 |
| NRAS-related disorder | 2 | Mar 21, 2025 |
| NSD2-related disorder | 1 | Sep 19, 2023 |
| Nabais Sa-de Vries syndrome | 1 | Sep 19, 2023 |
| Nemaline myopathy 2 | 10 | Mar 21, 2025 |
| Neonatal-onset encephalopathy with rigidity and seizures | 2 | Sep 20, 2019 |
| Nephrotic syndrome, type 4 | 1 | Apr 29, 2020 |
| Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | 1 | Sep 19, 2023 |
| Neurodevelopmental disorder | 3 | Jul 31, 2020 |
| Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | 1 | Jul 31, 2020 |
| Neurodevelopmental disorder with dysmorphic facies and variable seizures | 1 | Sep 19, 2023 |
| Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | 1 | Mar 21, 2025 |
| Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation | 2 | Sep 19, 2023 |
| Neurodevelopmental disorder with language impairment and behavioral abnormalities | 1 | Sep 19, 2023 |
| Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | 1 | Apr 4, 2018 |
| Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | 1 | Oct 15, 2021 |
| Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | 1 | Sep 19, 2023 |
| Neurofibromatosis, type 1 | 2 | Mar 21, 2025 |
| Neurohypophyseal diabetes insipidus | 1 | Mar 21, 2025 |
| Neuronopathy, distal hereditary motor, autosomal recessive 7 | 2 | Sep 19, 2023 |
| Neuronopathy, distal hereditary motor, autosomal recessive 8 | 1 | Sep 19, 2023 |
| Nicolaides-Baraitser syndrome | 1 | Jul 31, 2020 |
| Niemann-Pick disease, type C1 | 1 | Apr 4, 2017 |
| Niemann-Pick disease, type C1, juvenile form | 2 | Jul 31, 2020 |
| Nizon-Isidor syndrome | 1 | Sep 19, 2023 |
| Noonan syndrome | 2 | Sep 19, 2023 |
| Noonan syndrome 1 | 1 | Sep 20, 2019 |
| Noonan syndrome 10 | 1 | Sep 20, 2019 |
| Noonan syndrome 12 | 1 | Oct 15, 2021 |
| Noonan syndrome 2 | 1 | Sep 20, 2019 |
| Noonan syndrome 5 | 1 | Jul 31, 2020 |
| Noonan syndrome 8 | 5 | Mar 21, 2025 |
| Noonan syndrome-like disorder with loose anagen hair | 1 | Sep 20, 2019 |
| Noonan syndrome-like disorder with loose anagen hair 2 | 1 | Sep 19, 2023 |
| OTX2-related disorder | 1 | Sep 19, 2023 |
| Obesity | 1 | Sep 19, 2023 |
| Oculocerebrodental syndrome | 1 | Mar 21, 2025 |
| Oculocerebrofacial syndrome, Kaufman type | 2 | Sep 19, 2023 |
| Okur-Chung neurodevelopmental syndrome | 1 | Mar 21, 2025 |
| Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | 1 | Sep 20, 2019 |
| Ornithine carbamoyltransferase deficiency | 9 | Mar 21, 2025 |
| Orofaciodigital syndrome type 14 | 1 | Mar 21, 2025 |
| Ovarian Cancers | 1 | Sep 20, 2019 |
| PACS2-related disorder | 1 | Mar 21, 2025 |
| PALB2-related disorder | 1 | Mar 21, 2025 |
| PAX2-related disorder | 1 | Oct 15, 2021 |
| PCDH19-related epilepsy syndrome | 1 | Mar 21, 2025 |
| PEX1-related disorder | 2 | Mar 21, 2025 |
| PEX12-related disorder | 2 | Sep 19, 2023 |
| PEX13-related disorder | 1 | Sep 19, 2023 |
| PEX6-related disorder | 2 | Jul 31, 2020 |
| PGM1-congenital disorder of glycosylation | 1 | Sep 20, 2019 |
| PHGDH deficiency | 1 | Oct 15, 2021 |
| PHOX2B-related disorder | 1 | Mar 21, 2025 |
| PIEZO1-related disorder | 1 | Mar 21, 2025 |
| PIGV-related disorder | 1 | Sep 19, 2023 |
| PIK3CA related overgrowth syndrome | 1 | Oct 15, 2021 |
| PIK3R2-related disorder | 1 | Mar 21, 2025 |
| PKLR-related disorder | 1 | Mar 21, 2025 |
| PMM2-congenital disorder of glycosylation | 2 | Sep 20, 2019 |
| PMS2-related cancer disorders | 1 | Sep 19, 2023 |
| PNKP-related disorder | 1 | Sep 19, 2023 |
| PNPT1-related disorder | 1 | Sep 19, 2023 |
| POLG-related disorder | 2 | Mar 21, 2025 |
| PPA2-related disorder | 1 | Sep 19, 2023 |
| PPP3CA-related disorder | 1 | Sep 19, 2023 |
| PRKAR1A-related disorder | 1 | Mar 21, 2025 |
| PRRT2-related disorder | 1 | Sep 19, 2023 |
| PSAT1-related disorder | 2 | Mar 21, 2025 |
| PTCH1-related disorder | 1 | Sep 19, 2023 |
| PTEN hamartoma tumor syndrome | 1 | Sep 19, 2023 |
| PTEN-related disorder | 1 | Mar 21, 2025 |
| PTPN11-related disorder | 10 | Mar 21, 2025 |
| PURA Syndrome | 2 | Sep 19, 2023 |
| Pancytopenia due to IKZF1 mutations | 1 | Oct 15, 2019 |
| Paragangliomas 5 | 1 | Sep 20, 2019 |
| Periventricular nodular heterotopia 9 | 1 | Sep 19, 2023 |
| Permanent neonatal diabetes mellitus | 1 | Apr 22, 2019 |
| Peroxisome biogenesis disorder 1B | 1 | Sep 20, 2019 |
| Peroxisome biogenesis disorder 3A (Zellweger) | 1 | Sep 20, 2019 |
| Perrault syndrome 3 | 1 | Sep 19, 2023 |
| Phelan-McDermid syndrome | 1 | Oct 14, 2021 |
| Pheochromocytoma | 1 | Mar 21, 2025 |
| Platelet-type bleeding disorder 10 | 2 | Sep 20, 2019 |
| Poirier-Bienvenu neurodevelopmental syndrome | 3 | Mar 21, 2025 |
| Polyagglutinable erythrocyte syndrome | 1 | Sep 20, 2019 |
| Polycystic kidney disease, adult type | 2 | Mar 21, 2025 |
| Polyglandular autoimmune syndrome, type 1 | 2 | Oct 31, 2017 |
| Pontocerebellar hypoplasia type 6 | 2 | Mar 21, 2025 |
| Primary coenzyme Q10 deficiency 8 | 1 | Sep 19, 2023 |
| Primary familial hypertrophic cardiomyopathy | 1 | Sep 20, 2019 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 2 | Oct 15, 2021 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 2 | Oct 15, 2021 |
| Progressive myoclonic epilepsy type 7 | 1 | Sep 20, 2019 |
| Progressive sclerosing poliodystrophy | 2 | Oct 15, 2021 |
| Prolidase deficiency | 2 | Jul 31, 2020 |
| Propionic acidemia | 2 | Sep 19, 2023 |
| Pseudo-Hurler polydystrophy | 1 | Sep 20, 2019 |
| Pseudopseudohypoparathyroidism | 1 | Dec 20, 2017 |
| Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome | 1 | Mar 21, 2025 |
| Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia | 1 | Sep 20, 2019 |
| Pyridoxine-dependent epilepsy | 2 | Sep 20, 2019 |
| Pyruvate dehydrogenase E1-alpha deficiency | 3 | Sep 19, 2023 |
| Pyruvate kinase deficiency of red cells | 2 | Oct 15, 2021 |
| RAC3-related disorder | 1 | Sep 19, 2023 |
| RAD21-related disorder | 1 | Sep 19, 2023 |
| RAD51-related disorder | 1 | Oct 15, 2021 |
| RAD51C-related disorder | 2 | Mar 21, 2025 |
| RAF1-related disorder | 1 | Oct 15, 2021 |
| RAPSN-related disorder | 4 | Mar 21, 2025 |
| RET-related disorder | 3 | Mar 21, 2025 |
| RYR1-related disorder | 9 | Mar 21, 2025 |
| Rauch-Steindl syndrome | 1 | Sep 19, 2023 |
| Recessive dystrophic epidermolysis bullosa | 1 | Jul 31, 2020 |
| Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | 2 | Mar 21, 2025 |
| Renal hypodysplasia/aplasia 3 | 1 | Sep 20, 2019 |
| Renal tubular dysgenesis | 2 | Sep 19, 2023 |
| Retinal arterial tortuosity | 2 | Oct 15, 2021 |
| Rett syndrome | 2 | Oct 15, 2021 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 1 | Jul 31, 2020 |
| SAMHD1-related disorder | 1 | Sep 19, 2023 |
| SCN1A Seizure Disorders | 1 | Jul 31, 2020 |
| SCN1A-related disorder | 3 | Oct 14, 2021 |
| SCN1B-related disorder | 1 | Mar 21, 2025 |
| SCN2A-related disorder | 6 | Mar 21, 2025 |
| SCN4A-related disorder | 4 | Mar 21, 2025 |
| SCN5A-related disorder | 9 | Mar 21, 2025 |
| SCN8A-related disorder | 2 | Sep 19, 2023 |
| SCN9A-related disorder | 1 | Mar 21, 2025 |
| SDHA-related disorder | 2 | Sep 19, 2023 |
| SDHB-related disorder | 2 | Mar 21, 2025 |
| SERAC1-related disorder | 1 | Sep 19, 2023 |
| SERPING1-related disorder | 1 | Mar 21, 2025 |
| SETBP1-related disorder | 1 | Jul 14, 2023 |
| SETD2-related disorder | 1 | Jul 31, 2020 |
| SETD5-related disorder | 1 | Sep 19, 2023 |
| SLC2A1-related disorder | 1 | Jul 31, 2020 |
| SLC35A2-congenital disorder of glycosylation | 2 | Oct 15, 2021 |
| SLC4A1-related disorder | 1 | Sep 19, 2023 |
| SMAD2-related cardiac disorders | 1 | Sep 19, 2023 |
| SMAD4-related disorder | 1 | Mar 21, 2025 |
| SMAD6-related disorder | 2 | Mar 21, 2025 |
| SMARCA4-related disorder | 1 | Mar 21, 2025 |
| SMARCB1-related disorder | 1 | Sep 19, 2023 |
| SPTA1-related disorder | 2 | Sep 19, 2023 |
| STAT1-Related Immunodeficiency | 1 | Sep 19, 2023 |
| STAT3-related disorder | 2 | Sep 19, 2023 |
| STING-associated vasculopathy with onset in infancy | 1 | Sep 19, 2023 |
| STXBP1-related disorder | 1 | Sep 19, 2023 |
| Scalp-ear-nipple syndrome | 1 | Jul 31, 2020 |
| Schaaf-Yang syndrome | 1 | Sep 20, 2019 |
| Schinzel-Giedion syndrome | 1 | Sep 19, 2023 |
| Schuurs-Hoeijmakers syndrome | 1 | Oct 15, 2021 |
| Seizures, benign familial neonatal, 1 | 1 | Oct 15, 2021 |
| Seizures, benign familial neonatal, 2 | 2 | Oct 15, 2021 |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 2 | Oct 15, 2021 |
| Severe X-linked myotubular myopathy | 6 | Sep 19, 2023 |
| Severe combined immunodeficiency disease | 1 | Jul 31, 2020 |
| Severe combined immunodeficiency due to CARD11 deficiency | 2 | Sep 20, 2019 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 1 | Sep 19, 2023 |
| Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | 1 | Sep 20, 2019 |
| Severe intellectual disability-progressive spastic diplegia syndrome | 1 | Aug 5, 2020 |
| Severe myoclonic epilepsy in infancy | 2 | Aug 5, 2020 |
| Severe neonatal-onset encephalopathy with microcephaly | 1 | Sep 20, 2019 |
| Shprintzen-Goldberg syndrome | 1 | Sep 20, 2019 |
| Shwachman syndrome | 1 | Sep 19, 2023 |
| Shwachman-Diamond syndrome 1 | 1 | Sep 20, 2019 |
| Sifrim-Hitz-Weiss syndrome | 2 | Sep 19, 2023 |
| Sitosterolemia | 1 | Sep 19, 2023 |
| Snijders Blok-Campeau syndrome | 1 | Sep 19, 2023 |
| Sotos syndrome | 3 | Sep 19, 2023 |
| Sox17- related disorders | 1 | Sep 19, 2023 |
| Sphingomyelin/cholesterol lipidosis | 3 | Sep 19, 2023 |
| Spinal muscular atrophy | 2 | Jul 31, 2020 |
| Spinal muscular atrophy with congenital bone fractures 2 | 2 | Oct 15, 2021 |
| Spinocerebellar ataxia 47 | 1 | Jul 31, 2020 |
| Spinocerebellar ataxia type 15/16 | 1 | Sep 19, 2023 |
| Spinocerebellar atrophy | 1 | Sep 19, 2023 |
| Spondyloepiphyseal dysplasia congenita | 1 | Sep 20, 2019 |
| Spongy degeneration of central nervous system | 1 | Sep 20, 2019 |
| Stickler syndrome type 1 | 1 | Sep 20, 2019 |
| Sucrase-isomaltase deficiency | 3 | Sep 19, 2023 |
| Sudden cardiac failure, infantile | 2 | May 20, 2020 |
| Sulfite oxidase deficiency | 1 | Apr 14, 2021 |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | 2 | Sep 20, 2019 |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B | 1 | Oct 15, 2021 |
| Syndromic X-linked intellectual disability 34 | 1 | Sep 19, 2023 |
| TAOK1-related disorder | 1 | Sep 19, 2023 |
| TARP syndrome | 1 | Jul 31, 2020 |
| TBCK-related disorder | 1 | Mar 21, 2025 |
| TBL1XR1-related disorder | 1 | Sep 19, 2023 |
| TBX1-related disorder | 1 | Mar 21, 2025 |
| TBX4-related disorder | 1 | Sep 19, 2023 |
| TCF12-related craniosynostosis | 1 | Jul 31, 2020 |
| TET3-related disorder | 3 | Mar 11, 2022 |
| THG1L-related disorder | 2 | Mar 21, 2025 |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | 1 | Mar 21, 2025 |
| TMEM67-related disorder | 4 | Sep 19, 2023 |
| TNFRSF13B-related disorder | 1 | Mar 21, 2025 |
| TNNI3-related disorder | 2 | Mar 21, 2025 |
| TOR1A-related disorder | 1 | Sep 19, 2023 |
| TPM1-related disorder | 1 | Mar 21, 2025 |
| TRAF7-related disorder | 1 | Mar 21, 2025 |
| TREX1-related disorder | 3 | Mar 21, 2025 |
| TRPV4-Associated Disorders | 1 | Sep 19, 2023 |
| TSC2-related disorder | 1 | Mar 21, 2025 |
| TSEN54 Pontocerebellar Hypoplasia | 1 | Sep 19, 2023 |
| TSHR-related disorder | 1 | Sep 19, 2023 |
| TTN-related disorder | 13 | Mar 21, 2025 |
| TTR-related disorder | 1 | Sep 19, 2023 |
| TUBA1A-associated tubulinopathy | 2 | Sep 19, 2023 |
| TUBB2A-related tubulinopathy | 1 | Mar 21, 2025 |
| TUBB3-Releated Disorders | 1 | Jul 31, 2020 |
| TUBB3-related disorder | 1 | Sep 19, 2023 |
| Tay-Sachs disease | 5 | Sep 19, 2023 |
| Teratoid tumor, atypical | 1 | Sep 20, 2019 |
| Thrombophilia due to thrombin defect | 1 | Sep 20, 2019 |
| Thyroid dyshormonogenesis 6 | 3 | Jul 31, 2020 |
| Torsion dystonia 6 | 1 | Sep 20, 2019 |
| Treacher Collins syndrome 3 | 1 | Sep 20, 2019 |
| Trichorhinophalangeal dysplasia type I | 1 | Sep 20, 2019 |
| Tuberous sclerosis 2 | 1 | Sep 20, 2019 |
| UBA2-related disorder | 1 | Sep 19, 2023 |
| UBA5-related disorder | 1 | Mar 21, 2025 |
| UDPglucose-4-epimerase deficiency | 2 | Aug 5, 2020 |
| UGT1A1-related disorder | 2 | Jul 14, 2023 |
| UMOD-related disorder | 1 | Sep 19, 2023 |
| USP9X-related disorder | 1 | Sep 19, 2023 |
| Ullrich congenital muscular dystrophy 2 | 1 | Sep 20, 2019 |
| VARS2-related disorder | 1 | Sep 19, 2023 |
| VCP-related disorder | 1 | Sep 19, 2023 |
| VWF-related disorder | 1 | Sep 19, 2023 |
| Vanishing white matter disease | 2 | Jul 31, 2020 |
| Very long chain acyl-CoA dehydrogenase deficiency | 1 | Jul 31, 2020 |
| Vici syndrome | 2 | Jul 31, 2020 |
| Visceral heterotaxy | 2 | Sep 20, 2019 |
| Visceral myopathy 1 | 2 | Apr 29, 2020 |
| WARS2-related disorder | 2 | Mar 21, 2025 |
| WDR19-related disorder | 2 | Mar 21, 2025 |
| WDR62-related disorder | 2 | Sep 19, 2023 |
| WT1-related disorder | 2 | Mar 21, 2025 |
| Warfarin response | 1 | Sep 20, 2019 |
| Wieacker-Wolff syndrome | 1 | Mar 21, 2025 |
| Wiedemann-Steiner syndrome | 4 | Mar 21, 2025 |
| Wilson disease | 1 | Sep 19, 2023 |
| X-linked agammaglobulinemia | 1 | Sep 26, 2018 |
| X-linked central congenital hypothyroidism with late-onset testicular enlargement | 1 | Oct 15, 2021 |
| X-linked dominant chondrodysplasia, Chassaing-Lacombe type | 1 | Jul 14, 2023 |
| X-linked intellectual disability | 1 | Sep 19, 2023 |
| X-linked intellectual disability Cabezas type | 1 | Sep 19, 2023 |
| X-linked intellectual disability, Cantagrel type | 1 | Oct 15, 2021 |
| X-linked lymphoproliferative disease due to SH2D1A deficiency | 1 | Mar 21, 2025 |
| beta Thalassemia | 1 | Jul 31, 2020 |
| intellectual developmental disorder-50 with behavioral abnormalities (MRD50) | 1 | Oct 14, 2021 |
| not provided | 6 | Sep 6, 2022 |
| not specified | 1 | Oct 14, 2021 |
| von Willebrand disease type 2 | 1 | Sep 20, 2019 |
