Term Name: Miller-Dieker lissencephaly syndrome
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 )

Relationships
is a type of: autosomal dominant disease syndrome