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Cerebellar ataxia, benign, with thermoanalgesia

MedGen UID:
349136
Concept ID:
C1859303
Disease or Syndrome
Synonym: CEREBELLAR ATAXIA WITH LOSS OF PAIN AND TEMPERATURE SENSATION
 
Monarch Initiative: MONDO:0008937
OMIM®: 212890

Clinical features

From HPO
Progressive cerebellar ataxia
MedGen UID:
140727
Concept ID:
C0393525
Disease or Syndrome
Axonal loss
MedGen UID:
316962
Concept ID:
C1832338
Finding
A reduction in the number of axons in the peripheral nervous system.
Impaired temperature sensation
MedGen UID:
866867
Concept ID:
C4021222
Finding
A reduced ability to discriminate between different temperatures.

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