periventricular nodular heterotopia
Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.
Mutations in the HECT domain of <span class="gene" id="27694961-0-32-38">NEDD4L</span> lead to AKT-mTOR pathway deregulation and cause <span class="disease" id="27694961-0-87-122">periventricular nodular heterotopia</span>.