Conditions / Nervous system
periventricular nodular heterotopia 7
info · Nervous system
A periventricular nodular heterotopia characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability; some patients develop seizures that has_material_basis_in heterozygous mutatio
A periventricular nodular heterotopia characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability; some patients develop seizures that has_material_basis_in heterozygous mutation in the NEDD4L gene on chromosome 18q21.
Signs and symptoms
- Global developmental delay
- Gray matter heterotopia
- Periventricular nodular heterotopia
- 2-3 toe syndactyly
- Cleft palate
- Axial hypotonia
- Intellectual disability
- Absent speech
- Cryptorchidism
- Hypotonia