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GENATLAS PHENOTYPE

last update : 24-05-2017

Symbol	EVR2
Location	Xp11.3
HGNC id	3505
Name	familial exudative vitreoretinopathy 2
Corresponding gene	NDP
related resource	Retinal Information Network
Other symbol(s)	XLVR, FEVR
Main clinical features	retinal traction, peripheral vitreous opacities, and subretinal and intraretinal exudates posterior vitreous detachment with organized membranes in all quadrants vitreoretinal traction produced by membranes and resulted in displacement of the macula snowflake opacities scattered through the vitreous humor rare X-linked form
Genetic determination	sex linked
Function/system disorder	eye
Type	disease

Gene product

Name	putative mucin-like protein

Remark(s)

allelic to NDP, may be involving a linked gene in rare cases