Symbol
| HSCR2
|
Location
| 13q22.3
|
Name
|
Hirschsprung disease 2 |
Corresponding gene
|
EDNRB
|
Main clinical features
|
absence of enteric ganglia along a variable length of the intestine, in any cases associated with white forelock, hearing deficit, and heterochromia iridis |
Genetic determination
| autosomal recessive |
Related entries
| . sometimes associated with Waardenburg syndrome, type 4, Shah-Waardenburg syndrome, see also WS4A
|
Function/system disorder
| congenital malformation |
| digestive tract/gastrointestinal |
Type
| disease
|