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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease friedreich ataxia
Comorbidity C0271270|oculomotor apraxia
Sentences 2
PubMedID- 20713024 (1)h mr spectroscopy in friedreich's ataxia and ataxia with oculomotor apraxia type 2.
PubMedID- 24218524 In both affected siblings, acquired causes of ataxia were excluded as was friedreich's ataxia, ataxia with oculomotor apraxia type 1 (aoa1), ataxia with oculomotor apraxia type 2 (aoa2), ataxia telangiectasia, early onset primary dystonia (dyt1), vitamin e deficiency, wilson's disease and spinocerebellar ataxia type 1–3.

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