| GTO ID(s) | GTC2786 |
| Disease Name | Encephalopathy Syndrome |
| Synonyms | miller-dieker lissencephaly syndrome, mds, miller-dieker syndrome, smith-magenis syndrome, syndrome, miller-dieker, classical lissencephaly, x-linked lissencephaly, subcortical band heterotopia, classical lissencephalies and subcortical band heterotopias, lissencephaly, x-linked, 1 |
| Definition | DO:A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene. |
| Xref | DO:0060469 | MESH:D054221 | MIM:247200 | NCI:C124852 | EFO:0008801 | MONDO:0009532 | MSH:D054221 | OMIM:247200 | ORDO:531 | SNOMEDCT_US_2023_03_01:253148005 | UMLS_CUI:C0265219 |
| Disease Group | Cancer |