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All Diseases > PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome (PHTS)
Disease Category: Developmental Synaptopathies
A spectrum of disorders caused by mutations in the PTEN gene which typically suppresses tumors in germline (egg or sperm) cells. The hallmark characteristic of the disorder is the widespread presence of multiple hamartomas (localized, benign, tumor-like malformations) which contain a mixture of mature cells and tissue. Affected individuals may have an increased risk for certain cancers and neurodevelopmental disorders.