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GENATLAS PHENOTYPE

last update : 04-12-2020

Symbol	CSRD
Location	1p31.1
HGNC id	10294
Name	childhood-onset severe retinal dystrophy
Other name(s)	Severe Early Childhood Onset Retinal Dystrophy
Corresponding gene	RPE65
Other symbol(s)	RD12, MRPE65, SRPE65, P63, SECORD
Main clinical features	affect rod and cone photoreceptors simultaneously extremely poor night vision, variable degrees of nystagmus, bilateral disc drusen
Genetic determination	autosomal recessive
Function/system disorder
Type	disease

Gene product

Name	retinal pigment epithelium-specific protein 65kDa

Remark(s)