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References OMIM Gene GeneReviews HGMD HGNC
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