Symbol
| EDHN3
|
Location
| 12q13.13
|
Name
|
ectodermal dysplasia, 'pure' hair-nail type 3 |
Other name(s)
|
ectodermal dysplasia 9, hair/nail type |
Corresponding gene
|
HOXC13
|
Other symbol(s)
| ECTD9
|
Main clinical features
|
hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations
congenital atrichia and severe nail dystrophy
histopathological examination of scalp skin of the index individual showed an apparently reduced number of hair follicles with disorganized hair shafts lacking the normal layered structure |
Genetic determination
| autosomal dominant |
| autosomal recessive |
Function/system disorder
| dermatology |
Type
| disease
|