Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Synonyms: Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome
A rare genetic neurological disorder characterized by intrauterine growth retardation failure to thrive infantile onset of sensorineural deafness severe global developmental delay or absent psychomotor development paraplegia or quadriplegia with dystonia and pyramidal signs microcephaly ocular abnormalities (strabismus optic atrophy) mildly dysmorphic features (deep-set eyes prominent nasal bridge micrognathia) seizures and abnormalities of brain morphology (hypomyelinating white matter changes cerebral atrophy).
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 September 2023.
Newly diagnosed with
Severe motor and intellectual disabilities-sensorineural deafness-dystonia 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.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Clinical Trials
For a list of clinical trials in this disease area, please click here.