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Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome

ORPHA:1171 · Disease · Disorder

HPO 表現型（共 13 項）

Very frequent (99-80%)(6)

  • AreflexiaHP:0001284
  • AtaxiaHP:0001251
  • EncephalopathyHP:0001298
  • Muscle weaknessHP:0001324
  • Optic atrophyHP:0000648
  • Sensorineural hearing impairmentHP:0000407

Occasional (29-5%)(7)

  • Abnormality of eye movementHP:0000496
  • Autistic behaviorHP:0000729
  • Cognitive impairmentHP:0100543
  • DysphagiaHP:0002015
  • DystoniaHP:0001332
  • Pes cavusHP:0001761
  • SeizureHP:0001250