Miller–Dieker lissencephaly syndrome

Also known as Miller-Dieker syndrome, MDS, Miller-Dieker lissencephaly syndrome, Telomeric deletion 17p, Monosomy 17p13.3, Lissencephaly due to 17p13.3 deletion

syndrome characterized by classical lissencephaly and distinct facial features. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients