Condition: PERIVENTRICULAR NODULAR HETEROTOPIA 7
rs879255596
in
NEDD4L
gene and
PERIVENTRICULAR NODULAR HETEROTOPIA 7
PMID 27694961
2016 Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.