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.
Hennekam
R C
RC
Institute of Human Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Gorlin
R J
RJ
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