Term Name: lissencephaly 1
Synonyms: LIS1, PAFAH1B1-related lissencephaly
Definition: A lissencephaly characterized by an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia that has_material_basis_in mutation heterozygous in the PAFAH1B1 gene on chromosome 17p13.3.
Ontology: Human Disease [DOID:0112237]   ( DOID:0112237 )

Relationships
is a type of: autosomal dominant disease lissencephaly