Conditions / Nervous system
leukoencephalopathy with variable cortical brain malformations and/or hydrocephalus
info · Nervous system
A lissencephaly characterized by hydrocephalus, seizures, severely delayed psychomotor development, and cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia that has_material_basis_in homozygous or compound h
A lissencephaly characterized by hydrocephalus, seizures, severely delayed psychomotor development, and cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB1 gene on chromosome 7q31.1.
Signs and symptoms
- Hypoplasia of the brainstem
- Seizure
- Motor delay
- Type II lissencephaly
- Cerebellar hemisphere hypoplasia
- Hydrocephalus
- Intellectual disability
- Cerebellar vermis hypoplasia
- Abnormal cerebral white matter morphology
- Occipital encephalocele
Also known as: LIS5; lissencephaly 5