Term Name: | Miller-Dieker lissencephaly syndrome |
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Synonyms: | MDS, Miller-Dieker syndrome |
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. |
Ontology: | Human Disease [DOID:0060469] ( DOID:0060469 ) |