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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease pure autonomic failure
Comorbidity C0011991|diarrhea
Sentences 1
PubMedID- 24224623 Results: we identified a prnp y163x truncation mutation and describe a distinct and consistent phenotype of chronic diarrhea with autonomic failure and a length-dependent axonal, predominantly sensory, peripheral polyneuropathy with an onset in early adulthood.

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