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PedAM

Pediatric Disease Annotations & Medicines




Disease ataxia
Phenotype C0027765|neurologic disorder
Sentences 2
PubMedID- 20525256 In typical patients, the neurologic disorder consists mainly of cerebellar ataxia, dysarthria, dysphagia, and progressive dementia, and the majority of cases show a characteristic vertical supranuclear gaze palsy (vsgp) [36].
PubMedID- 23077024 To investigate further the frequency, spectrum, and phenotype of prrt2 mutations, we analyzed this gene in 3 large series of episodic neurologic disorders with pkd/ic, episodic ataxia (ea), and hemiplegic migraine (hm).

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