Xq25 microduplication syndrome
Synonyms: Dup(X)(q25) | Xq25 microtriplication
A rare X-linked multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome characterized by developmental delay mild to moderate intellectual disability speech disturbance behavioral problems (such as anxiety hyperactivity and aggressiveness) and mild facial dysmorphism (including facial hypotonia thin arched eyebrows ectropion epicanthus malar flatness thick vermillion of the lips and prognathia). Additional variable manifestations include short stature skeletal and genital anomalies seizures and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia thin corpus callosum and enlarged subarachnoid spaces.
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 2023.
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Xq25 microduplication syndrome?
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advocate for Rare disease patients and their families
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Uplifting Athletes Inc.
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For a list of clinical trials in this disease area, please click here.