11p15.4 microduplication syndrome
Synonyms: Dup(11)p(15.4) | Trisomy 11p15.4
A rare partial autosomal trisomy/tetrasomy characterized by obesity global developmental delay and intellectual disability facial dysmorphism (synophrys high-arched eyebrows large posteriorly rotated ears upturned nose long smooth philtrum overbite and high palate) large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities.
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 April 2024
Newly diagnosed with
11p15.4 microduplication syndrome?
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Advocacy Organizations
DDX3X Foundation
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.
Clinical Trials
For a list of clinical trials in this disease area, please click here.