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Congenital deafness with vitiligo and achalasia
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Other Names: Deafness vitiligo achalasia Congenital deafness with vitiligo and achalasia is a syndrome characterized by deafness present from birth (congenital), associated with short stature, vitiligo, muscle wasting and achalasia (swallowing difficulties). The condition was described in a brother and sister born to first cousin parents. It is believed to be inherited in an autosomal recessive manner.
NIH genetic and rare disease info
Congenital deafness with vitiligo and achalasia is a rare disease.
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