lissencephaly 9 with complex brainstem malformation (DOID:0112228)
Alliance: disease page
Synonyms: LIS9; posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
Alt IDs: OMIM:618325, ORDO:572013
Definition: A lissencephaly characterized by global developmental delay, impaired intellectual development with poor or absent speech, pachygyria, lissencephaly, and malformation of the brainstem that has_material_basis_in heterozygous mutation in the MACF1 gene on chromosome 1p34.3.