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GENATLAS PHENOTYPE

last update : 10-10-2017

Symbol	CDLS5
Location	Xq13.1
Name	Cornelia de Lange syndrome 5
Corresponding gene	HDAC8
Main clinical features	developmental disorder characterized by malformations affecting multiple systems, dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and mental retardation wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features
Genetic determination	sex linked
Function/system disorder	mental retardation
	osteo-articular
Type	disease

Remark(s)

cells derived from CDLS5 patients do not respond to retinoic acid (RA) signaling as efficiently as healthy controls (PMID: 28752682))