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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 10-01-2015
Symbol MRX72
Location Xq28
HGNC id 7306
Name mental retardation, 72
Corresponding gene RAB39B
Main clinical features
  • non specific, moderate to mild mental retardation, isolated, or associated with seizures, and with autism spectrum disorder
  • also delayed developmental milestones, cognitive impairment, and macrocephaly , associated to early-onset parkinsonism (onset prior to 45 years of age) (PMID: 25434005))
  • Genetic determination sex linked
    Function/system disorder mental retardation
    Type disease
    Remark(s)