This is consistent with what is currently known about functionally distinct PTEN variant groups in the literature, wherein gross reductions in PTEN activity are more often associated with cancer and severe cases of PHTS, while partial losses in protein stability and subtler reductions to function are associated with milder presentations observed with autism spectrum disorder and developmental disabilities [33, 51–53]. The gene discussed is PTEN; the disease is PTEN hamartoma tumor syndrome.