PIK3R2-related overgrowth spectrum

MONDO:1040004

Any overgrowth syndrome resulting from pathogenic gain-of-function variants in the PIK3R2 gene. The variants can be germline or somatic

Also known as: overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes

0 clinical trials for this condition and its sub-types, 0 tagged with PIK3R2-related overgrowth spectrum itself.

Where it sits in the disease tree

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Sub-types of PIK3R2-related overgrowth spectrum

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