Intellectual disability-expressive aphasia-facial dysmorphism syndrome
Synonyms: Intellectual disability-loss of expressive language-facial dysmorphism syndrome
A rare genetic syndromic intellectual disability characterized by moderate to severe intellectual deficiency language deficit (completely absent or significantly impaired speech) and distinctive facial dysmorphism (long face straight eyebrows and less frequently low-set ears and café-au-lait spots). Additional variably observed features include motor delays behavioral difficulties and seizures.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Intellectual disability-expressive aphasia-facial dysmorphism syndrome?
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Advocacy Organizations
DDX3X Foundation
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.
Clinical Trials
For a list of clinical trials in this disease area, please click here.