Van den Bosch syndrome
A rare X-linked syndromic intellectual disability characterized by intellectual deficit choroideremia horizontal nystagmus severe myopia acrokeratosis verruciformis-like skin abnormality anhidrosis and scapular winging. There have been no further descriptions in the literature since 1959.
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
Van den Bosch 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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Curing single-gene disorders
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Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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