(Q50349623)

English

autosomal dominant non-syndromic intellectual disability 19

An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of CTNNB1 on chromosome 3p22.1.

  • MRD19
  • autosomal dominant mental retardation 19
  • Intellectual disability, autosomal dominant 19
  • Mental Retardation, Autosomal Dominant type 19
  • CTNNB1-related intellectual disability
  • MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
  • neurodevelopmental disorder with spastic diplegia and visual defects
  • Severe intellectual disability-progressive spastic diplegia syndrome
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C176897
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