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

More general terms

• genetic syndrome (multisystem disorder)
• macrocephaly
• autism (autistic spectrum disorder, ASD)

Database

• OMIM: https://mirror.omim.org/entry/605309