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Echinobase
Summary Literature (0)
DOID:0060469 - Miller-Dieker lissencephaly syndrome

Disease Ontology Definition:A syndrome characterized by classical lissencephaly and distinct facial features. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients.

Synonyms: MDS, Miller-Dieker syndrome,

Echinobase Genes :


OMIM:
MIM:247200 - miller-dieker lissencephaly syndrome; mdls

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

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