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GENATLAS PHENOTYPE

last update : 15-03-2011

Symbol	RP31
Location	9p22-p13
HGNC id	19438
Name	retinitis pigmentosa 31
Corresponding gene	TOPORS
Main clinical features	French Canadian family, presenting with early onset retinitis pigmentosa characterized by constriction of the visual fields, night blindness, and fundus changes, including 'bone corpuscle' lumps of pigment
Genetic determination	autosomal dominant
Function/system disorder	eye
Type	disease

Remark(s)