lissencephaly 5

Term ID

DOID:0112230

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. (2)

References

• OMIM:615191

Ontology

Human Disease   ( DOID:0112230 )