PTEN and PTEN hamartoma tumor syndrome: To explore the relationship between PTEN variant morphological profiles and autism spectrum disorder/developmental delay (ASD/DD), PTEN Hamartoma Tumor Syndrome (PHTS), or somatic cancer, we curated 66 germline variants in 541 probands from 170 publications for PHTS and ASD/DD phenotypes (Supplementary Table 3) as well as 22 variants from the Catalogue Of Somatic Variants In Cancer (COSMIC) database87 (Fig. 6d).