Synonyms: BRESHECK syndrome
X-linked mental retardation Reish type is characterised by Brain anomalies severe mental Retardation Ectodermal dysplasia Skeletal deformities (vertebral anomalies scoliosis polydactyly) Ear/eye anomalies (maldevelopment small optic nerves low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).
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 October 2023.
Newly diagnosed with
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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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Curing single-gene disorders
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Syndromes Without A Name (SWAN) Australia
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