(Q50349621)

English

Schuurs-Hoeijmakers Syndrome

An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of PACS1 on chromosome 11q13.1-q13.2.

  • MRD17
  • autosomal dominant mental retardation 17
  • SHMS
  • MENTAL RETARDATION, AUTOSOMAL DOMINANT 17; MRD17
  • Mental Retardation, Autosomal Dominant type 17
  • Schuurs-Hoeijmakers syndrome
  • MENTAL RETARDATION, AUTOSOMAL DOMINANT 17

Statements

C150555
0 references

Identifiers

 
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