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GENATLAS PHENOTYPE

last update : 07-05-2019

Symbol	MRSHM
Location	12q13.1
Name	mental retardation syndromic, with hypotonia and micromelia
Corresponding gene	SMARCD1
Main clinical features	developmental delay, intellectual disability, hypotonia, feeding difficulties, and small hands and feet abnormalities of the fifth digit, and characteristic facial features
Genetic determination	not applicable
Function/system disorder	digestive tract/gastrointestinal
	osteo-articular
	mental retardation
Type	disease

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