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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease cockayne syndrome
Comorbidity C0003635|apraxia
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PubMedID- 23524341 As a proof of principle cockayne syndrome, ataxia with oculomotor apraxia 1 (aoa1), spinocerebellar ataxia with axonal neuropathy 1 (scan1) and ataxia-telangiectasia have recently been shown to have mitochondrial dysfunction and those diseases showed strong association with mitochondrial disorders.

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