Any overgrowth syndrome resulting from pathogenic gain-of-function variants in the PIK3CA gene. The variants can be germline or somatic [ http://www.ncbi.nlm.nih.gov/pubmed/23592320 https://clinicalgenome.org/affiliation/50020/ https://orcid.org/0000-0002-0587-4693 http://www.ncbi.nlm.nih.gov/pubmed/25557259 http://www.ncbi.nlm.nih.gov/pubmed/23946963 ]
Term information
rare, inferred_rare
overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes