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GENATLAS PHENOTYPE

last update : 27/05/2008

Symbol	CDPX1
Location	Xp22.32
Name	chondrodysplasia punctata 1, X-linked recessive
Corresponding gene	ARSE
Other symbol(s)	ARSEX, CPXR
Main clinical features	onset in infancy with failure to thrive, apparent mental retardation, and atypical facies, with punctate calcifications in radiographs of the feet and other sites symetric, with/without brachytelephalangy diagnosis was confirmed by finding punctate calcifications in radiographs of the feet and other sites hypoplasia of the distal phalanges is a distinctive feature in any cases
Genetic determination	sex linked
Function/system disorder	osteo-articular
Type	disease

Gene product

Name	arylsulfatase E (ARSE)

Remark(s)