Conditions / Nervous system
lissencephaly 3
info · Nervous system
A lissencephaly characterized by brain malformations, microcephaly, developmental delay and epilepsy that has_material_basis_in heterozygous mutation in the TUBA1A gene on chromosome 12q13.12.
Signs and symptoms
- Ventriculomegaly
- Cerebellar vermis hypoplasia
- Global developmental delay
- Microcephaly
- Hypoplasia of the brainstem
- Seizure
- Hypotonia
- Ataxia
- Generalized hypotonia
- Agyria
Also known as: LIS3