Autosomal dominant optic atrophy plus syndrome
Name: |
Autosomal dominant optic atrophy plus syndrome
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Description: |
A rare neuro-ophthalmological disease associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia or multiple-sclerosis like illness.
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ORPHAcode: |
1215
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Synonyms: |
DOA+
Optic atrophy-deafness-polyneuropathy-myopathy syndrome
Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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