overgrowth syndrome PIK3CA-related overgrowth spectrum 2024-07-03T13:33:20Z https://github.com/monarch-initiative/mondo/issues/7718 overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes Any overgrowth syndrome resulting from pathogenic gain-of-function variants in the PIK3CA gene. The variants can be germline or somatic MEDGEN:1790024 MONDO:1040002 UMLS:C4728213 GARD:0027113