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Deafness, Dystonia, and Cerebral Hypomyelination
A syndrome characterized by motor and intellectual disabilities, dystonia, sensorineural deafness, white-matter changes and disorganization of the Golgi apparatus that is caused by heterozygous mutation in the BCAP31 gen
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When to seek help
Seek medical help right away if you have severe, sudden, or worsening symptoms, trouble breathing, chest pain, or any symptom that feels life-threatening. This community is for peer support and education only and is not a substitute for professional medical advice.
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Overview
A syndrome characterized by motor and intellectual disabilities, dystonia, sensorineural deafness, white-matter changes and disorganization of the Golgi apparatus that is caused by heterozygous mutation in the BCAP31 gen
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Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.