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GENATLAS PHENOTYPE

last update : 29/06/2006

Symbol	EXT2
Location	11p11.2
Name	exostoses, multiple, 2
Corresponding gene	EXT2
Main clinical features	congenital, associated with foramina parietalia permagma, craniosynostosis, micropenis, mental retardation in a contiguous gene syndrome with 11p-deletion (DEF11S)
Genetic determination	autosomal dominant
Function/system disorder	osteo-articular
Type	disease

Gene product

Name	putative suppressor gene, 82 kD, mostly loss of function mutations

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