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GENATLAS PHENOTYPE

last update : 17-01-2015

Symbol	CORD10
Location	1q22
Name	retinal cone-rod dystrophy 10
Corresponding gene	SEMA4A
Main clinical features	retinal disorders characterized by an initial loss of cone photoreceptors, followed by degeneration of rod photoreceptors, and often leading to registrable blindness
Genetic determination	autosomal recessive
Function/system disorder	eye
Type	disease

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
			D345H associated to F350C, in the semaphorin domain

Remark(s)