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Summary Literature (1)
DOID:0060469 - Miller-Dieker lissencephaly syndrome


Disease Ontology Definition:A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene.

Synonyms: MDS, Miller-Dieker syndrome,

Xenbase Genes : ywhae, pafah1b1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009532 - Miller-Dieker lissencephaly syndrome


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), syndrome (is_a)