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GENATLAS PHENOTYPE

last update : 25-11-2020

Symbol	RP55
Location	3q11.2
Name	retinitis pigmentosa 55
Corresponding gene	ARL6
Main clinical features	blurred vision and nyctalopia in infancy funduscopy showed pale optic discs, retinal vessel attenuation, and salt-and-pepper retinopathy no recognizable primary or secondary features of BBS other than retinitis pigmentosa
Genetic determination	autosomal recessive
Function/system disorder	eye
Type	disease

Remark(s)