Term Name: palmoplantar keratoderma-deafness syndrome
Synonyms: keratoderma palmoplantar deafness, palmoplantar hyperkeratosis-deafness syndrome, palmoplantar hyperkeratosis-hearing loss syndrome, palmoplantar keratoderma with deafness, palmoplantar keratoderma-hearing loss syndrome, PPK-deafness syndrome
Definition: A syndrome characterized by sensorineural hearing loss and progressive hyperkeratosis of the palms and soles that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11.
Ontology: Human Disease [DOID:0111505]   ( DOID:0111505 )

Relationships
is a type of: autosomal dominant disease syndrome