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De novo genetic diseases
Syndromic disorders
- Alagille Syndrome (JAG1)
- CHARGE Syndrome (CHD7)
- Cornelia de Lange Syndrome, type 5 (HDAC8)
- Cornelia de Lange Syndrome, type 1 (NIPBL)
- Rett Syndrome (MECP2)
- Sotos Syndrome, type 1 (NSD1)
- Bohring-Opitz Syndrome (ASXL1)
- Schinzel-Giedion Syndrome (SETBP1)
- Holoprosencephaly (SIX3)
Noonan spectrum disorders
- Cardiofaciocutaneous Syndrome, type 1 (BRAF)
- Noonan syndrome-like disorder (NSLL) (CBL)
- Noonan Syndrome, type 3 (KRAS)
- Cardiofaciocutaneous Syndrome, type 3 (MAP2K1)
- Cardiofaciocutaneous Syndrome, type 4 (MAP2K2)
- Noonan Syndrome, type 6 (NRAS)
- Noonan Syndrome, type 1 (PTPN11)
- Noonan Syndrome, type 5 (RAF1)
- Noonan Syndrome, type 8 (RIT1)
- Noonan syndrome-like disorder with loose anagen hair (SHOC2)
- Noonan Syndrome, type 4 (SOS1)
Skeletal disorders
- Achondrogenesis, type II (COL2A1)
- Achondroplasia (FGFR3)
- CATSHL Syndrome
- Crouzon Syndrome with acanthosis nigricans (FGFR3)
- Hypochondroplasia (FGFR3)
- Muenke Syndrome (FGFR3)
- Thanatophoric dysplasia, type I
- Thanatophoric dysplasia, type II
- Ehlers-Danlos Syndrome, classic (COL1A1)
- Ehlers-Danlos Syndrome, type VIIA
- Osteogenesis imperfecta, type I
- Osteogenesis imperfecta, type II (COL1A2)
- Osteogenesis imperfecta, type III
- Osteogenesis imperfecta, type IV
- Ehlers-Danlos Syndrome, type VIIB
Craniosynostosis syndromes
- Antley-Bixler Syndrome
- Apert Syndrome (FGFR2)
- Crouzon Syndrome (FGFR2)
- Jackson-Weiss Syndrome
- Pfeiffer Syndrome, type 1
- Pfeiffer Syndrome, type 2
- Pfeiffer Syndrome, type 3
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