X-linked mental retardation, syndromic, Opitz-Kaveggia type; FG syndrome type 1

Genetics

• X-linked
• associated with defects in MED12

Clinical manifestations

• syndromic mental retardation
• relative macrocephaly
• hypotonia
• constipation

More general terms

• X-linked mental retardation syndromic

Database

• OMIM: https://mirror.omim.org/entry/305450