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| Nance-Horan syndrome ： ウィキペディア英語版 |
Nance–Horan syndrome
Nance–Horan syndrome is a rare X linked syndrome characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies. Microcornea, microphthalmia and mild or moderate mental retardation may accompany these features. Heterozygous females often manifest similarly but with less severe features than affected males.
==Genetics==
This syndrome is due to mutations in the Nance Horan gene (NHS) which is located on the short arm of the X chromosome (Xp22.13).
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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