Human genes for lissencephaly 5
Lissencephaly 5 [DOID:0112230]
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 LAMB1 on chromosome 7q31.1.
Synonyms: lissencephaly 5, DOID:0112230, LIS5