X-linked intellectual disability, Van Esch type
A rare genetic syndromic intellectual disability characterized by developmental delay mild to moderate intellectual disability low birth weight moderate to severe short stature microcephaly and variable hypergonadotropic hypogonadism. Mild facial dismorfism include upslanted palpebral fissures and prominent nasal bridge.
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 March 2024
Newly diagnosed with
X-linked intellectual disability, Van Esch type?
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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.
To fund research for treatment and/or a cure for CASK Gene Disorder
For a list of clinical trials in this disease area, please click here.