(Q32145200)
English
Waardenburg syndrome type 4C
Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has material basis in heterozygous mutation in the SOX10 gene on chromosome 22q13
- Waardenburg syndrome with Hirschsprung disease type 4C
- Waardenburg syndrome type IVC
- WS4C
- Waardenburg Syndrome With Hirschsprung Disease, Type 4C
- Waardenburg Syndrome, Type 4C
- WAARDENBURG SYNDROME, TYPE 4C; WS4C
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