Conditions / Nervous system
periventricular nodular heterotopia 9
info · Nervous system
A periventricular nodular heterotopia characterized as a malformation of cortical development that has_material_basis_in heterozygous mutation in the MAP1B gene on chromosome 5q13.
Signs and symptoms
- Epicanthus
- Everted upper lip vermilion
- Prominent fingertip pads
- Gray matter heterotopia
- Microtia
- Single transverse palmar crease
- High palate
- Gingival overgrowth
- Posteriorly rotated ears
- Hirsutism