Symbol
| WS2D
|
Location
| 8q11.21
|
Name
|
Waardenburg syndrome, type 2D |
Corresponding gene
|
SNAI2
|
Main clinical features
|
heterogeneous, predominantly sporadic disorder with auditory and pigmentary features identical to those of Waardenburg syndrome type I but without dystopia canthorum |
Genetic determination
| autosomal recessive |
Related entries
| . including partial albinism, heterochromia of iris, profound bilateral sensorineural deafness, without dystopia canthorum
|
Function/system disorder
| ear |
| dermatology |
| eye |
Type
| disease
|