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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
Database Correlations
OMIM 305450
References
OMIM :accession 305450