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GENATLAS PHENOTYPE

last update : 02-02-2015

Symbol	DLCRM
Location	3p13
Name	distal limb contractures with mental retardation
Corresponding gene	FOXP1 , EIF4E3
Main clinical features	multiple contractures, feeding problems, developmental delay, and intellectual disability facial dysmorphism was constant with low-set posteriorly rotated ears and blepharophimosis
Genetic determination	chromosomal
Function/system disorder	mental retardation
	osteo-articular
Type	MCA/MR

Remark(s)

large interstitial deletions of the 3p including EIF4E3, the first three exons of the FOXP1 gene, and an intronic enhancer of FOXP1 named hs1149 (PMID: 25258245))