You are using an outdated browser. Please upgrade your browser to improve your experience.

albinism-deafness syndrome

Disease Summary
Associated Targets ()

Mondo Description Albinism-deafness syndrome (ADFN) is characterised by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1.
Mondo Term and Equivalent IDs
MONDO:0010403:  albinism-deafness syndrome
GARD:0000589: 
MESH:C537042: 
Orphanet:998: 
SCTID:722285005: 
SCTID:74320008: