albinism-hearing loss syndrome
A syndromic genetic hearing loss is characterized 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:0019290
hypopigmentation of the skin
is_a
MONDO:0043209
albinism
is_a
MONDO:0100118
hereditary skin disorder
is_a
ADFN
related
ALDS
related
Woolf syndrome
related
Woolf's syndrome
exact
Ziprkowski–Margolis syndrome
exact
albinism deafness syndrome
narrow
albinism-deafness syndrome
narrow