| Symbol
| WS4A
|
| Location
| 13q22.3
|
| Name
|
Waardenburg syndrome, type 4A |
| Other name(s)
|
Shah-Waardenburg- syndrome
Waardenburg-Hirsprung syndrome |
| Corresponding gene
|
EDNRB
|
| Other symbol(s)
| ABCD, WS4
|
| Main clinical features
|
partial albinism, deafness, without dystopia canthorum
may be associated to Hirschsprung disease |
| Genetic determination
| autosomal recessive |
| Related entries
| . including ABCD syndrome : (Omim: 600155 ) albinism, black lock, Hirschsprung disease and deafness
. see also HSCR2
|
| Function/system disorder
| congenital malformation |
|
| ear |
|
| digestive tract/gastrointestinal |
| Type
| disease
|