Xp22.13p22.2 duplication syndrome

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Synonyms: Dup(X)(p22) | Dup(X)(p22.13p22.2) | Duplication Xp22

A rare syndromic intellectual disability characterized by developmental delay and intellectual disability learning and behavioral problems short stature thin and sparse hair mild dysmorphic features tapering fingers and later onset of scoliosis obesity and cardiovascular problems (cardiomegaly and cardiomyopathy). Females have normal intelligence.

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://www.orphadata.org. Data version June 2024

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Xp22.13p22.2 duplication syndrome?

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