lissencephaly 5 (DOID:0112230)
Alliance: disease page
Synonyms: LIS5
Alt IDs: OMIM:615191
Definition: 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.