Developmental malformations-deafness-dystonia syndrome
Synonyms: Developmental malformations-hearing loss-dystonia syndrome
Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations sensory hearing loss and a delayed-onset generalised dystonia syndrome.
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 October 2023.
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Developmental malformations-deafness-dystonia syndrome?
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Advocacy Organizations
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
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