Conditions / Nervous system
X-linked lissencephaly 1
info · Nervous system
A lissencephaly characterized by classic lissencephaly and intellectual disability in males that has_material_basis_in mutation in DCX on chromosome Xq23.
Signs and symptoms
- Axial hypotonia
- Micropenis
- Seizure
- Dysarthria
- Agenesis of corpus callosum
- Ataxia
- Agyria
- Gray matter heterotopia
- Motor delay
- Nystagmus
Also known as: XLIS1; lissencephaly type 1 due to doublecortin gene mutation