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Autosomal dominant optic atrophy and congenital deafness

Orpha number ORPHA3212
Synonym(s) Konigsmark-Knox-Hussels syndrome
Prevalence -
Inheritance -
Age of onset -
  • H47.2
MeSH -
MedDRA -


Autosomal dominant optic atrophy and congenital deafness (ADOAD) is a form of autosomal dominant optic atrophy, (ADOA; see this term) characterized by congenital severe deafness and progressive mid-life visual failure.

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