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GENATLAS PHENOTYPE

last update : 05-04-2016

Symbol	MCOPS5
Location	14q23.1
Name	microphthalmia syndromic 5
Corresponding gene	OTX2
Main clinical features	unilateral or bilateral microphthalmia/clinical anophthalmia and variable additional features including coloboma, microcornea, cataract, retinal dystrophy, hypoplasia or agenesis of the optic nerve, agenesis of the corpus callosum, developmental delay, joint laxity, hypotonia, and seizures
Genetic determination	autosomal recessive
	autosomal dominant
Function/system disorder	eye
Type	malformation

Gene product

Name	orthodenticle homolog 2

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
frameshift		haploinsufficiency

Remark(s)