Distal Xq28 microduplication syndrome
Synonyms: Distal dup(X)q(28) | Distal trisomy Xq28 | Int22h1/Int22h2 mediated-Xq28 microduplication syndrome
A rare syndromic X-linked intellectual disability characterized by cognitive impairment behavioral and psychiatric problems obesity recurrent infections atopic diseases and distinctive facial features in males. Females are clinically asymptomatic or mildly affected presenting mild learning difficulties and facial dysmorphism.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
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Distal Xq28 microduplication syndrome?
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