Human genes for lissencephaly 9 with complex brainstem malformation
Lissencephaly 9 with complex brainstem malformation [DOID:0112228]
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 MACF1 on chromosome 1p34.3.
Synonyms: lissencephaly 9 with complex brainstem malformation, DOID:0112228, LIS9, posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome, posteriorpredominant lissencephalybroad flat pons and medullamidline crossing defects syndrome ...