Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A rare disorder 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. Disease data Klasyfikacja Malformation syndrome Synonimy Albinism-hearing loss syndrome Kod ORPHA 998 Kod OMIM 300700 Kod ICD10 H90.5 Kod ICD11 LD2H.Y *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl