eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | h syndrome |
| Comorbidity | C0004134|ataxia |
| Sentences | 2 |
| PubMedID- 21196529 | They suggest that the t14487c mtdna mutation should be analyzed in leigh syndrome, presenting with optic atrophy, ataxia, dystonia, and epilepsy, regardless of age. |
| PubMedID- 25772141 | It is presumed that these pathomechanisms may contribute at least partly to explain the neuropathology of cerebellum abnormalities and the ataxia observed in patients with hhh syndrome. |
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