Auditory neuropathy-optic atrophy syndrome

Orpha code: 542585OMIM code: 617717

Definicja

A rare mitochondrial disease characterized by bilateral auditory neuropathy and optic atrophy. Patients present hearing and visual impairment in the first or second decade of life, while psychomotor development is normal. Bilateral retinitis pigmentosa has been reported in association.

Disease data
Klasyfikacja

Disease

Kod ORPHA
542585
Kod OMIM
617717
Kod ICD10
E88.8
Kod ICD11
-

No additional description.

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