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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 27/07/2006 |
Symbol | ECTP |
Location | 11p13 |
Name | ectopia pupillae |
Corresponding gene | PAX6 |
Main clinical features | congenital eye malformation in which the pupils are displaced from their normal central position |
Genetic determination | autosomal dominant |
Function/system disorder | eye |
Type | disease |