Conditions / Nervous system
lissencephaly 10
info · Nervous system
A lissencephaly characterized by variably delayed development, mildly to moderately impaired intellectual development and language delay, seizures, brain features consistent with neuronal migration defects that has_material_basis_in heterozygous mutation in th
A lissencephaly characterized by variably delayed development, mildly to moderately impaired intellectual development and language delay, seizures, brain features consistent with neuronal migration defects that has_material_basis_in heterozygous mutation in the CEP85L gene on chromosome 6q22.31.
Signs and symptoms
- EEG abnormality
- Posterior predominant subcortical band heterotopia
- Focal impaired awareness seizure
- Intellectual disability
- Global developmental delay
- Atonic seizure
- Tonic seizure
- Pachygyria
- Bilateral tonic-clonic seizure
- Myoclonic seizure
Also known as: LIS10