Miller-Dieker lissencephaly syndrome

Term ID

DOID:0060469

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. (4)

References

• ICD10CM:Q93.88
• MESH:D054221
• MIM:247200
• NCI:C124852
• ORDO:531
• SNOMEDCT_US_2023_03_01:253148005
• UMLS_CUI:C0265219

Ontology

Human Disease   ( DOID:0060469 )