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GENATLAS PHENOTYPE

last update : 30-08-2010

Symbol	CDRHX
Location	Xp11.23
Name	chondrodysplasia rhizomelic with hydrocephaly, X-linked
Corresponding gene	HDAC6
Main clinical features	platyspondyly, rhizomelic shortening of the members, specific brachydactyly, hydrocephaly, facial dysmorphism, mental retardation and microphtalmia phenotype in heterozygous females is less severe and comprises short stature, body asymmetry and moderate mental retardation.
Genetic determination	sex linked
Function/system disorder	neurology
	osteo-articular
Type	disease

Remark(s)

. the disease is associated with the variant c.*281A>T in the 3 prime-UTR , variant located in the HDAC6 sequence matching the seed of hsa-miR-433 and totally abrogates the post-transcriptional regulation normally exerted by this microRNA (Simon 2010)