(Q50349620)

English

Coffin-Siris syndrome 4

An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of SMARCA4 on chromosome 19p13.2.

  • MRD16
  • autosomal dominant mental retardation 16
  • CSS4
  • MENTAL RETARDATION, AUTOSOMAL DOMINANT 16; MRD16
  • MENTAL RETARDATION, AUTOSOMAL DOMINANT 16
  • Mental Retardation, Autosomal Dominant type 16
  • COFFIN-SIRIS SYNDROME 4

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