mental retardation, nonsyndromic autosomal dominant 5 (MRD5)

Genetics

• autosomal dominant form associated with defects in SYNGAP1

Clinical manifestations

• non-specific (see mental retardation)
  • sub-average general intellectual functioning associated with impairments in adaptative behavior
  • manifested during the developmental period
• specifc to MRD5
  • global developmental delay
  • delayed motor development
  • hypotonia
  • moderate-to-severe mental retardation
  • severe language impairment
• autism can be present in some patients

More general terms

• mental retardation, nonsyndromic

Database

• OMIM: https://mirror.omim.org/entry/612621