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 April 2024
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Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome?
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Advocacy Organizations
BCAP31.org
BCAP31.org is dedicated to those living with BCAP31-related disorders by supporting affected families, clinicians providing care, and researchers studying BCAP31.
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
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.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.