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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
a) tall stature
b) hypernasal voice
c) hyperextensible digits & high nasal root
Database Correlations
OMIM 309520
References
OMIM :accession 309520