Symbol
| KHM2
|
Location
| 13q12.11
|
Name
|
keratoderma (hyperkeratosis), palmoplantar, mutilans, 2 |
Other name(s)
|
Vohwinkel syndrome
deafness, congenital, with keratopachydermia and constrictions of fingers and toes |
Corresponding gene
|
GJB2
|
Other symbol(s)
| KHM
|
Main clinical features
|
ectodermal dysplasia, neurosensory deafness with palmoplantar keratoderma (hyperkeratosis), constricting bands on the fifth digits of hands and feet (pseudoainhum) |
Genetic determination
| autosomal dominant |
Related entries
| . including cases of isolated neurosensory deafness and palmar keratoderma
|
Function/system disorder
| dermatology |
Type
| disease
|