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Disease Ontology Browser
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.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory