Confirmation of the Yemenite (Warburg) deaf-blind hypopigmentation syndrome.
The Yemenite deaf-blind hypopigmentation syndrome is a rare disorder characterized by severe early hearing loss, microcornea and colobomata, and cutaneous pigmentation abnormalities. A girl with similar skin symptoms and hearing loss, but no microcornea or colobomata is described and compared to other reported patients.
Institute of Human Genetics, Academic Medical Center, Amsterdam, The Netherlands.
R C
RC
Hennekam
R J
RJ
Gorlin
D002648:Child; D003638:Deafness / Q000150:complications* / Q000235:genetics; D005124:Eye Abnormalities / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D017496:Hypopigmentation / Q000150:complications / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D007859:Learning Disabilities / Q000150:complications / Q000235:genetics; D008297:Male; D009122:Muscle Hypertonia / Q000150:complications / Q000235:genetics; D011247:Pregnancy; D013577:Syndrome