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GENATLAS PHENOTYPE

last update : 23-01-2009

Symbol	EDS11
Location	7q21.3
Name	Ehlers-Danlos syndrome, type XI
Other name(s)	familial joint instability syndrome articular hypermobility syndrome
Corresponding gene	COL1A2
Main clinical features	characterized by joint hypermobility, skin hyperextensibility, and cardiac valvular defects minor signs of Ehlers-Danlos syndrome but severe changes in the aorta requiring surgical repair
Genetic determination	autosomal recessive
Function/system disorder	osteo-articular
	dermatology
Type	disease

Gene product

Name	collagen, type I, alpha 2

Remark(s)