| Symbol
| DCWHK
|
| Location
| 6p24.3
|
| Name
|
cardiomyopathy, dilated, with wooly hair and keratoderma |
| Other name(s)
|
palmoplantar hyperkeratoma (hyperkeratosis), striata 2R
Carvajal syndrome |
| Corresponding gene
|
DSP
|
| Other symbol(s)
| PPKS2R
|
| Main clinical features
|
associated to woolly hair and a dilated left ventricular cardiomyopaphy, with arrythmia leading to precocious heart failure |
| Genetic determination
| autosomal recessive |
|
| autosomal dominant |
| Related entries
| including skin fragility wooly -hair syndrome, SFWHS (OMIM 607655 ), and erythrokeratodermia and cardiomyopathy (PMID: 26604139)
|
| Function/system disorder
| cardiovascular |
|
| connective tissue |
| Type
| disease
|