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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 03-04-2013
Symbol MAOA/BD
Location Xp13
Name MAOA/B deletion syndrome
Corresponding gene MAOA , MAOB
Main clinical features
  • short stature, hypotonia, severe developmental delays, episodes of sudden loss of muscle tone, exiting behavior, lip-smacking and autistic features
  • serotonin levels in their cerebrospinal fluid were extremely elevated
  • Genetic determination sex linked
    Function/system disorder mental retardation
    Type disease
    Remark(s)