Conditions / Nervous system
Norman-Roberts syndrome
info · Nervous system
A lissencephaly that has_material_basis_in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22.
Signs and symptoms
- Hypotonia
- Global developmental delay
- Lissencephaly
- Microcephaly
- Sloping forehead
- Cerebellar hypoplasia
- Generalized-onset seizure
- 4-layered lissencephaly
- Hypoplasia of the pons
- Thick cerebral cortex
Also known as: lissencephaly 2; lissencephaly syndrome, Norman-Roberts type