Developmental malformations - deafness - dystonia
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Summary
This syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome. It has been described in two monozygotic twins. The syndrome is caused by a missense point mutation in the gene coding for beta-actin, a nonmuscle actin isoform. Mutations in nonmuscle actin isoforms may be associated with developmental anomalies and neurological disorders such as dystonia. *Author: Orphanet (June 2006)*.
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