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GENATLAS PHENOTYPE

last update : 26/09/2005

Symbol	DDSH
Location	1p36.12
Name	dyssegmental dysplasia, Silverman handmarker type
Corresponding gene	HSPG2
Main clinical features	anisospondyly and micromelia, severe, lethal
Genetic determination
Function/system disorder	osteo-articular
Type	disease

Gene product

Name

perlecan

Remark(s)