Synonyms: Branchial dysplasia-intellectual disability-inguinal hernia syndrome
A very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia macrostomia preauricular tags and meatal atresia) club feet inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit.
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 September 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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