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autosomal dominant optic atrophy and peripheral neuropathy

Disease Summary
Associated Targets ()

Mondo Description Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance.
Mondo Term and Equivalent IDs
MONDO:0016646:  autosomal dominant optic atrophy and peripheral neuropathy
Orphanet:250932: 
UMLS:CN201872: