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GENATLAS PHENOTYPE

last update : 30/06/2006

Symbol	BAPA
Location	14q22.3-q23
Name	bilateral anophthalmia, absence of the optic nerve and chiasma
Other name(s)	microphthalmia, isolated with cataract 2
Corresponding gene	SIX6
Other symbol(s)	MCOPCT2
Main clinical features	bilateral microphthalmia, congenital cataract, and nystagmus
Genetic determination	autosomal recessive
Function/system disorder	eye
	neurology
Type	malformation