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PedAM

Pediatric Disease Annotations & Medicines




Disease cerebellar ataxia
Phenotype C0271270|oculomotor apraxia
Sentences 4
PubMedID- 23956581 These hereditary ataxias include freidreich ataxia (fdra), spinocerebellar ataxia, and ataxia with oculomotor apraxias types 1 (aoa1) and 2 (aoa2).
PubMedID- 21392394 Molecular studies of frataxin and aprataxin genes ruled out friedrich ataxia and cerebellar ataxia with oculomotor apraxia 1 (aoa1).
PubMedID- 21827898 Autosomal recessive cerebellar ataxias with oculomotor apraxia.
PubMedID- 23941260 oculomotor apraxia (oma) associated with cerebellar ataxia was first noted by boder and sedgwick[1] in patients with ataxia-telangiectasia (a-t).

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