Term Name: | lissencephaly 9 with complex brainstem malformation |
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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 ) |