PTEN and PTEN hamartoma tumor syndrome: In a retrospective study of the percentage of patients with a confirmed PTEN mutation among different pediatric cohorts, 2/14 (14.2%) had PHTS among those with ASD and macrocephaly, 3/13 (23.1%) had PHTS among those with ASD and developmental delay/ID and macrocephaly, and 6/32 (18.8%) had PHTS among those with developmental delay/ID and macrocephaly [31].