Human genes for Vohwinkel syndrome
Vohwinkel syndrome [DOID:0111339]
A syndrome characterized by severe, honeycomb-patterned palmoplantar keratosis, constrictions on the fingers and toes leading to autoamputation and mild to moderate congenital sensorineural hearing loss that has_material_basis_in heterozygous mutation in GJB2 on chromosome 13q12.11.
Synonyms: Vohwinkel syndrome, DOID:0111339, Vohwinkel disease, Vohwinkel disorder, Vohwinkel syndromes ...