X-linked mental retardation, syndromic, Lujan-Fryns type; X-linked mental retardation with marfanoid habitus

Genetics

• X-linked
• associated with defects in MED12

Clinical manifestations

• syndromic mental retardation
• distinguished from Opitz-Kaveggia syndrome by
  • tall stature
  • hypernasal voice
  • hyperextensible digits & high nasal root

More general terms

• X-linked mental retardation syndromic

Database

• OMIM: https://mirror.omim.org/entry/309520