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macrocephaly/autism syndrome
Genetics:
- associated with defects in PTEN
Clinical manifestations:
- autism spectrum disorders
- macrocephaly, with head circumferences ranging from +2.5 to +8 SD for age & sex (average head circumference +4.0 SD)
Laboratory:
- PTEN gene mutation
General
genetic syndrome (multisystem disorder)
macrocephaly
autism (autistic spectrum disorder, ASD)
Database Correlations
OMIM 605309
References
UniProt :accession P60484