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1.

Posterior column ataxia-retinitis pigmentosa syndrome

Posterior column ataxia with retinitis pigmentosa is an autosomal recessive neurologic disorder characterized by childhood-onset retinitis pigmentosa and later onset of gait ataxia due to sensory loss (summary by Ishiura et al., 2011). [from OMIM]

MedGen UID:
324636
Concept ID:
C1836916
Disease or Syndrome
2.

Hyperintensity of MRI T2 signal of the spinal cord

A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord. [from HPO]

MedGen UID:
896507
Concept ID:
C4280684
Finding

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