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References OMIM Gene GeneReviews HGMD HGNC
last update : 06-03-2009
Symbol FGS4
Location Xp11.4
HGNC id 1497
Name FG syndrome 4
Corresponding gene CASK
Main clinical features
  • short stature, mental retardation, corpus callosum agenesis, constipation with or without anal anomalies
  • relative macrocephaly, congenital hypotonia, severe constipation, and behavioral disturbances
  • Genetic determination sex linked
    Function/system disorder congenital malformation
    mental retardation
    Type disease