TCF4 and PTEN hamartoma tumor syndrome: The nature of the overall samples varied, with participants recruited for studies on the basis of ASD (3 studies), macrocephaly and ASD (2 studies), macrocephaly and other developmental/cognitive/behavioural/neurological symptoms (3 studies), suspected PHTS (1 study) or having been tested for PTHS/PTEN mutation (2 studies).