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GENATLAS PHENOTYPE
last update : 26-05-2021
Symbol IDASDCC
Location 19p13.11
Name intellectual disability, autism spectrum disorder and corpus callosum defects
Corresponding gene SIN3B
Main clinical features
  • intellectual disability, developmental delay, mild to moderate and dysmorphic facial features with variably penetrant autism spectrum disorder, congenital malformations, corpus callosum defects
  • also ASD, or attention deficit hyperactivity disorder (ADHD); cerebral MRI showed variable features; these included corpus callosum defects and subependymal nodular heterotopia
  • Genetic determination not applicable
    Function/system disorder mental retardation
    psychiatry disorder
    neurology
    Type disease
    Remark(s)