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GENATLAS PHENOTYPE

last update : 16-03-2013

Symbol	MCOP8
Location	15q26.3
Name	microphthalmia, isolated 8
Corresponding gene	ALDH1A3
Main clinical features	severe bilateral clinical anophthalmia with possible association to heart anomalies, autism and intellectual disability at cerebral MRI, small optic nerves and a small optic chiasm
Genetic determination	autosomal recessive
Function/system disorder	eye
	mental retardation
Type	disease

Remark(s)