A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable intellectual disability developmental delay autistic behavior short stature and microcephaly. Additional variable manifestations include feeding problems vision and hearing impairments recurrent upper airway infections and epilepsy. Reported malformations are cryptorchidism and cerebral anomalies. Dysmorphic facial features include short and upslanted palpebral fissures ptosis telecanthus depressed nasal ridge short nose anteverted nares short columella and long philtrum.
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.
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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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