Microcephaly-seizures-intellectual disability-heart disease syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly intellectual disability seizures and congenital heart defects (e.g. atrial/ventricular septal defect hypoplastic aortic arch with persistent ductus arteriosus). Additional manifestations include mild hypothyroidism skeletal abnormalities micropenis delayed psychomotor development dysmorphic facial features (including epicanthus depressed nasal bridge prominent antitragus) and pulmonary vascular occlusive disease. There have been no further descriptions in the literature since 1989.
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.
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Microcephaly-seizures-intellectual disability-heart disease 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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