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OMIM

Gene

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HGMD

HGNC

GENATLAS PHENOTYPE

last update : 24/12/2008

Symbol	ASMD3
Location	11p13
Name	ocular anterior segment mesenchymal dysgenesis 3
Other name(s)	Peters anomaly with cataract, Axenfeld-Rieger spectrum
Corresponding gene	PAX6
Main clinical features	results from abnormal migration or function of neural crest cells and may include abnormalities of other anterior segment structures, such as the lens and iris congenital corneal opacity with cataract
Genetic determination	autosomal dominant
Function/system disorder	eye
Type	malformation

Gene product

Name	paired box containing protein 6 (PAX6)

Remark(s)