Miller-Dieker syndrome

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Miller-Dieker syndrome

Synonyms: Lissencephaly due to 17p13.3 deletion | Monosomy 17p13.3 | Telomeric deletion 17p

Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3 characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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Miller-Dieker syndrome?

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