Bart-Pumphrey syndrome (DOID:0050658)
Alliance: disease page
Synonyms: KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS
Alt IDs: OMIM:149200
Definition: A syndrome that is characterized by leukonychia, wart-like skin growths, palmoplantar keratoderma and hearing loss, has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.