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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
Newly diagnosed with
Xq25 microduplication syndrome?
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Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
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