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GENATLAS PHENOTYPE

last update : 18-10-2016

Symbol	MRXSB
Location	Xq22.1
Name	mental retardation, X-linked, syndromic, Bain type
Corresponding gene	HNRNPH2
Main clinical features	X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features, and with developmental regression musculoskeletal abnormalities, seizures, acquired microcephaly, and feeding problems with poor overall growth; only females are affected
Genetic determination	sex linked
Function/system disorder
Type	disease

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