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GENATLAS PHENOTYPE
last update : 19-06-2019
Symbol MRBSG
Location 1p36.11
Name mental retardation with brain, skeletal and genital anomalies
Corresponding gene HNRNPR
Main clinical features
  • multisystem developmental defects including abnormalities of the brain and skeleton, dysmorphic facies, brachydactyly, seizures, and hypoplastic external genitalia
  • stereotypic movements, attention deficit disorder
  • Genetic determination not applicable
    Function/system disorder mental retardation
    osteo-articular
    neurology
    sex-genitalia
    Type disease
    Remark(s)