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References OMIM Gene GeneReviews HGMD HGNC
last update : 12-10-2015
Symbol MRD12
Location 6q25.3
Name mental retardation, autosomal dominant 12
Corresponding gene ARID1B
Main clinical features
  • moderate to severe psychomotor retardation, and muscular hypotonia; in many patients, expressive speech was reported to be more severely affected than receptive function
  • short stature, abnormal head shape and low-set, posteriorly rotated, and abnormally shaped ears, downslanting palpebral fissures, a bulbous nasal tip, a thin upper lip, minor teeth anomalies, and brachydactyly
  • Genetic determination autosomal dominant
    Function/system disorder mental retardation
    Type disease
  • loss of ARID1B modulates neurite behavior in a CTNNB1-dependent fashion and is supportive of an ARID1B function in brain and neuronal physiology (PMID: 26340334))