Term Name: lissencephaly 9 with complex brainstem malformation
Synonyms: LIS9, posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
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.
Ontology: Human Disease [DOID:0112228]   ( DOID:0112228 )

Relationships
is a type of: autosomal dominant disease lissencephaly