Conditions / Nervous system
lissencephaly 1
info · Nervous system
A lissencephaly characterized by an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia that has_material_basis_in heterozygous mutation in the PAFAH1B1 gene on chromosome 17p13.3.
Signs and symptoms
- Axial hypotonia
- Cerebellar hypoplasia
- Hypoplasia of the brainstem
- Subcortical band heterotopia
- Seizure
- Global developmental delay
- Spastic tetraparesis
- Secondary microcephaly
- Agyria
- Gray matter heterotopia
Also known as: LIS1; PAFAH1B1-related lissencephaly