PedAM
Pediatric Disease Annotations & Medicines
| Disease | ataxia |
| Phenotype | C0018784|sensorineural deafness |
| Sentences | 1 |
| PubMedID- 22960139 | In 2008, we and others described the occurrence of a multisystemic disorder characterized by severe optic atrophy and sensorineural deafness, associated with cerebellar ataxia, axonal sensory–motor polyneuropathy, and late chronic progressive external ophthalmoplegia (cpeo) and ptosis due to a subgroup of missense mutations in the optic atrophy 1 (opa1) gene, which was defined as doa “plus” syndrome (amati-bonneau et al., 2008; hudson et al., 2008). |
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