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Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome

ORPHA:445062 · Disease · Disorder

HPO 表現型（共 15 項）

Frequent (79-30%)(13)

  • Areflexia of lower limbsHP:0002522
  • Atrophy of the spinal cordHP:0006827
  • Atrophy/Degeneration affecting the brainstemHP:0007366
  • Bilateral sensorineural hearing impairmentHP:0008619
  • Cerebellar atrophyHP:0001272
  • Cerebral atrophyHP:0002059
  • Decreased body weightHP:0004325
  • Demyelinating peripheral neuropathyHP:0007108
  • Diabetes mellitusHP:0000819
  • Gait ataxiaHP:0002066
  • Sensorimotor neuropathyHP:0007141
  • Sensory ataxiaHP:0010871
  • Short statureHP:0004322

Occasional (29-5%)(2)

  • Babinski signHP:0003487
  • Mild intellectual disabilityHP:0001256