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Miller-Dieker Syndrome (MDS) is characterized by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition.
MDS is undoubtedly a rare condition with a reported estimate of 1 cases per 100 000 live births, although incidence and prevalence are probably higher.
Miller-Dieker Syndrome deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients.