Term Name: lissencephaly 5
Synonyms: LIS5
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.
Ontology: Human Disease [DOID:0112230]   ( DOID:0112230 )

Relationships
is a type of: autosomal recessive disease lissencephaly