Miller-Dieker lissencephaly syndrome (DOID:0060469)
Alliance: disease page
Synonyms: MDS; Miller-Dieker syndrome
Alt IDs: OMIM:247200, ICD10CM:Q93.88, MESH:D054221, NCI:C124852, ORDO:531, UMLS_CUI:C0265219
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.