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GENATLAS PHENOTYPE

last update : 23-01-2009

Symbol	EDS2
Location	9q34.3
Name	Ehlers-Danlos syndrome, type II
Other name(s)	Ehlers-Danlos syndrome, mitis type Ehlers-Danlos syndrome, mild classical type
Corresponding gene	COL5A1 , COL5A2
Other symbol(s)	EDSII
Main clinical features	characterized by joint hyperextensibility, joint hypermobility, widened atrophic scars, velvety skin and mild propensity for bruising, abnormally thin and steep corneas with floppy eyelids
Genetic determination	autosomal dominant
Function/system disorder	connective tissue
Type	disease

Gene product

Name	collagen type V, alpha 1 (COL5A1) or alpha 2 (COL5A2)

Remark(s)