| Metadata | |
|---|---|
| ID | DOID:0060469 |
| Name | Miller-Dieker lissencephaly 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. https://www.ncbi.nlm.nih.gov/pubmed/21239872, http://ghr.nlm.nih.gov/condition/miller-dieker-syndrome, https://en.wikipedia.org/wiki/Miller-Dieker_syndrome, https://www.ncbi.nlm.nih.gov/pubmed/9473821 |
| Xrefs |
SNOMEDCT_US_2023_03_01:253148005 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
MDS [EXACT] Miller-Dieker syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |