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GENATLAS PHENOTYPE

last update : 05-09-2018

Symbol	MRSHDL
Location	16p13.3
Name	mental retardation, syndromic with heart defects and limb anomalies
Corresponding gene	TRAF7
Main clinical features	developmental delay, congenital heart defects, limb and digital anomalies, and dysmorphic facial features motor and/or speech delay dysmorphic features included epicanthal folds, ptosis, abnormally set or dysplastic ears, and widely spaced and/or inverted nipples
Genetic determination	not applicable
Function/system disorder	mental retardation
	osteo-articular
	cardiovascular
Type	disease

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