Proximal Xq28 duplication syndrome

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Proximal Xq28 duplication syndrome

Synonyms: MECP2 duplication syndrome | X-linked intellectual disability syndrome, Lubs type

A rare X-linked genomic disorder associated with interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. It is characterized in males by infantile onset hypotonia severe global developmental delay intellectual disability progressive spasticity seizures gastrointestinal symptoms and recurrent respiratory infections. In females the phenotype is more variable.

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 October 2023.

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Proximal Xq28 duplication syndrome?

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