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DOID:0112228 - lissencephaly 9 with complex brainstem malformation
Disease Ontology 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.
Synonyms: LIS9, posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome,
Xenbase Genes
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Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee