Conditions / Genetic
lissencephaly 4
info · Genetic
A microlissencephaly characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the NDE1 gene on chromosome 16p13.11.
Signs and symptoms
- Wide nasal bridge
- Feeding difficulties
- Profound intellectual disability
- Global developmental delay
- Primary microcephaly
- Simplified gyral pattern
- Seizure
- Hypertonia
- Cerebellar hypoplasia
- Agenesis of corpus callosum
Also known as: LIS4; lissencephaly 4 with microcephaly