Germline and somatic variants in genes within this signaling pathway, including PTEN, PIK3CA, PIK3R2, and AKT3, have been implicated in overgrowth and neurodevelopmental disorders (NDD), characterized by the excess growth of the body and/or brain, depending on the specific distribution and degree of activation of the variant [1,2]. The gene discussed is PTEN; the disease is Neurodevelopmental delay.