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GENATLAS PHENOTYPE

last update : 23/05/2008

Symbol	OPNAB
Location	11p13
Name	optic nerve hypoplasia, bilateral, and coloboma
Other name(s)	optic nerve aplasia, bilateral
Corresponding gene	PAX6
Main clinical features	optic nerve hypoplasia, aplasia bilateral, or coloboma
Genetic determination	autosomal dominant
Related entries	including Morning glory disc anomaly
Function/system disorder	eye
Type	disease

Gene product

Name	paired box gene 6

Remark(s)