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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease cogan syndrome
Comorbidity C0007758|cerebellar ataxia
Sentences 3
PubMedID- 21392394 Molecular studies of frataxin and aprataxin genes ruled out friedrich ataxia and cerebellar ataxia with oculomotor apraxia 1 (aoa1).
PubMedID- 23941260 oculomotor apraxia (oma) associated with cerebellar ataxia was first noted by boder and sedgwick[1] in patients with ataxia-telangiectasia (a-t).
PubMedID- 21827898 Autosomal recessive cerebellar ataxias with oculomotor apraxia.

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