| 46,xx sex reversal 5 | 1 | Mar 19, 2024 |
| 8q24.3 microdeletion syndrome | 1 | Mar 19, 2024 |
| Adams-Oliver syndrome 5 | 1 | Mar 19, 2024 |
| Alagille syndrome due to a JAG1 point mutation | 3 | Mar 19, 2024 |
| Alagille syndrome due to a NOTCH2 point mutation | 1 | Mar 19, 2024 |
| Androgen resistance syndrome | 5 | Mar 19, 2024 |
| Aortic valve disease 1 | 2 | Mar 19, 2024 |
| Aortic valve disease 2 | 1 | Mar 19, 2024 |
| Ataxia-telangiectasia syndrome | 2 | May 3, 2017 |
| Atrial septal defect 4 | 1 | Mar 19, 2024 |
| Au-Kline syndrome | 1 | Mar 19, 2024 |
| Basal cell nevus syndrome 1 | 1 | Mar 19, 2024 |
| Beckwith-Wiedemann syndrome | 1 | Mar 19, 2024 |
| Branchiootorenal syndrome 1 | 1 | Mar 19, 2024 |
| Brugada syndrome 1 | 1 | Mar 19, 2024 |
| CHARGE syndrome | 2 | Mar 19, 2024 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 1 | Mar 19, 2024 |
| Cardiac-urogenital syndrome | 1 | Mar 19, 2024 |
| Cataract 40 | 1 | Mar 19, 2024 |
| Cholestasis, progressive familial intrahepatic, 4 | 1 | Mar 19, 2024 |
| Cholestasis-pigmentary retinopathy-cleft palate syndrome | 1 | Mar 19, 2024 |
| Citrullinemia type I | 1 | Mar 19, 2024 |
| Coffin-Siris syndrome 1 | 1 | Mar 19, 2024 |
| Combined deficiency of sialidase AND beta galactosidase | 2 | Mar 19, 2024 |
| Congenital heart defects and skeletal malformations syndrome | 1 | Mar 19, 2024 |
| Congenital heart defects, multiple types, 4 | 1 | Mar 19, 2024 |
| Congenital heart defects, multiple types, 7 | 1 | Mar 19, 2024 |
| Congenital muscular hypertrophy-cerebral syndrome | 1 | Mar 19, 2024 |
| DYRK1A-related intellectual disability syndrome | 1 | Mar 19, 2024 |
| Dejerine-Sottas disease | 1 | Mar 19, 2024 |
| Dent disease type 1 | 1 | Mar 19, 2024 |
| Developmental and epileptic encephalopathy 94 | 1 | Mar 19, 2024 |
| Developmental and epileptic encephalopathy, 2 | 1 | Mar 19, 2024 |
| Developmental and epileptic encephalopathy, 85, with or without midline brain defects | 1 | Mar 19, 2024 |
| Dilated cardiomyopathy 1S | 1 | Mar 19, 2024 |
| Drash syndrome | 1 | Mar 19, 2024 |
| Epidermolysis bullosa simplex 2A, generalized severe | 1 | Mar 19, 2024 |
| Epidermolysis bullosa simplex 2B, generalized intermediate | 1 | Mar 19, 2024 |
| Epidermolysis bullosa simplex 2C, localized | 1 | Mar 19, 2024 |
| Feingold syndrome type 1 | 2 | Mar 19, 2024 |
| Fraser syndrome 1 | 1 | Mar 19, 2024 |
| Frasier syndrome | 1 | Mar 19, 2024 |
| Generalized dominant dystrophic epidermolysis bullosa | 1 | Mar 19, 2024 |
| Genitourinary and/or brain malformation syndrome | 1 | Mar 19, 2024 |
| Glucocorticoid deficiency with achalasia | 1 | Mar 19, 2024 |
| Greig cephalopolysyndactyly syndrome | 2 | Mar 19, 2024 |
| HIRA-related disorder | 1 | Dec 25, 2023 |
| Hajdu-Cheney syndrome | 1 | Mar 19, 2024 |
| Heart defect - tongue hamartoma - polysyndactyly syndrome | 2 | Mar 19, 2024 |
| Hereditary factor VIII deficiency disease | 1 | Mar 19, 2024 |
| Hereditary spherocytosis type 2 | 1 | Mar 19, 2024 |
| Hereditary spherocytosis type 3 | 2 | Mar 19, 2024 |
| Heterotaxy, visceral, 7, autosomal | 1 | Mar 19, 2024 |
| Hidrotic ectodermal dysplasia syndrome | 1 | Mar 19, 2024 |
| Hypertrophic cardiomyopathy 1 | 2 | Mar 19, 2024 |
| Ichthyosis prematurity syndrome | 2 | Mar 19, 2024 |
| Intellectual developmental disorder 61 | 1 | Mar 19, 2024 |
| Intellectual disability, X-linked 102 | 1 | Mar 19, 2024 |
| Intellectual disability, autosomal dominant 40 | 1 | Mar 19, 2024 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 1 | Mar 19, 2024 |
| Joubert syndrome 9 | 2 | Mar 19, 2024 |
| Junctional epidermolysis bullosa with pyloric atresia | 1 | Mar 19, 2024 |
| KBG syndrome | 3 | Mar 19, 2024 |
| Langer mesomelic dysplasia syndrome | 1 | Mar 19, 2024 |
| Leri-Weill dyschondrosteosis | 1 | Mar 19, 2024 |
| Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | 1 | Mar 19, 2024 |
| Limb-mammary syndrome | 1 | Mar 19, 2024 |
| Long QT syndrome 3 | 1 | Mar 19, 2024 |
| MASA syndrome | 2 | Mar 19, 2024 |
| Mandibulofacial dysostosis-microcephaly syndrome | 3 | Mar 19, 2024 |
| Maturity-onset diabetes of the young type 1 | 1 | Mar 19, 2024 |
| Maturity-onset diabetes of the young type 2 | 1 | Mar 19, 2024 |
| Meacham syndrome | 1 | Mar 19, 2024 |
| Microcephaly 6, primary, autosomal recessive | 1 | Mar 19, 2024 |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 1 | Mar 19, 2024 |
| Mowat-Wilson syndrome | 1 | Mar 19, 2024 |
| Mucopolysaccharidosis type 7 | 2 | Mar 19, 2024 |
| Nance-Horan syndrome | 1 | Mar 19, 2024 |
| Neonatal ichthyosis-sclerosing cholangitis syndrome | 1 | Mar 19, 2024 |
| Neonatal pseudo-hydrocephalic progeroid syndrome | 1 | Mar 19, 2024 |
| Nephrotic syndrome, type 4 | 1 | Mar 19, 2024 |
| Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism | 1 | Mar 19, 2024 |
| Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies | 2 | Mar 19, 2024 |
| Neurofibromatosis, type 1 | 1 | Mar 19, 2024 |
| Oculocutaneous albinism type 1B | 1 | Mar 19, 2024 |
| Ornithine carbamoyltransferase deficiency | 1 | Mar 19, 2024 |
| Osteogenesis imperfecta type I | 1 | Mar 19, 2024 |
| Osteogenesis imperfecta type III | 1 | Mar 19, 2024 |
| Osteogenesis imperfecta with normal sclerae, dominant form | 1 | Mar 19, 2024 |
| Osteogenesis imperfecta, perinatal lethal | 1 | Mar 19, 2024 |
| Osteootohepatoenteric syndrome | 2 | Mar 19, 2024 |
| Pallister-Hall syndrome | 2 | Mar 19, 2024 |
| Phelan-McDermid syndrome | 2 | Mar 19, 2024 |
| Polycystic kidney disease 2 | 1 | Mar 19, 2024 |
| Polycystic kidney disease 4 | 1 | Sep 7, 2023 |
| Polycystic kidney disease, adult type | 1 | Mar 19, 2024 |
| Polydactyly, postaxial, type A1 | 2 | Mar 19, 2024 |
| Polysyndactyly 4 | 2 | Mar 19, 2024 |
| Premature ovarian failure 8 | 1 | Mar 19, 2024 |
| Primary ciliary dyskinesia 7 | 2 | Mar 19, 2024 |
| Pyropoikilocytosis, hereditary | 2 | Mar 19, 2024 |
| Pyruvate dehydrogenase E3-binding protein deficiency | 1 | Mar 19, 2024 |
| Recessive dystrophic epidermolysis bullosa | 5 | Mar 19, 2024 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 2 | Mar 19, 2024 |
| SIN3A-related intellectual disability syndrome due to a point mutation | 1 | Mar 19, 2024 |
| Smith-Magenis syndrome | 1 | Mar 19, 2024 |
| Sotos syndrome | 1 | Mar 19, 2024 |
| Spondylocostal dysostosis 5 | 1 | Mar 19, 2024 |
| Syndromic X-linked intellectual disability Najm type | 1 | Mar 19, 2024 |
| Syndromic X-linked intellectual disability Raymond type | 1 | Mar 19, 2024 |
| TCF12-related craniosynostosis | 1 | Mar 19, 2024 |
| Testosterone 17-beta-dehydrogenase deficiency | 1 | Mar 19, 2024 |
| Tuberous sclerosis 1 | 1 | Mar 19, 2024 |
| Tuberous sclerosis 2 | 6 | Mar 19, 2024 |
| Tyrosinase-negative oculocutaneous albinism | 1 | Mar 19, 2024 |
| Van der Woude syndrome 2 | 1 | Mar 19, 2024 |
| Woodhouse-Sakati syndrome | 1 | Mar 19, 2024 |
| X-linked hydrocephalus syndrome | 2 | Mar 19, 2024 |
