lissencephaly 1 (DOID:0112237)
Alliance: disease page
Synonyms: LIS1; PAFAH1B1-related lissencephaly
Alt IDs: OMIM:607432, ORDO:95232
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.