mental retardation syndromic X-linked ZDHHC9-related (MRXSZ)

Genetics

• associated with defects in ZDHHC9

Clinical manifestations

• mental retardation
  • significantly sub-average general intellectual functioning
  • impairments in adaptative behavior
  • manifested during the developmental period
• some patients have marfanoid habitus

More general terms

• X-linked mental retardation syndromic

Database

• OMIM: https://mirror.omim.org/entry/300799