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Infantile-onset autosomal recessive nonprogressive cerebellar ataxia

ORPHA:284332 · Disease · Disorder

HPO 表現型（共 18 項）

Very frequent (99-80%)(1)

  • Progressive cerebellar ataxiaHP:0002073

Frequent (79-30%)(16)

  • Babinski signHP:0003487
  • Broad-based gaitHP:0002136
  • Cerebellar atrophyHP:0001272
  • Cerebellar vermis atrophyHP:0006855
  • ClumsinessHP:0002312
  • Delayed speech and language developmentHP:0000750
  • DysarthriaHP:0001260
  • DysmetriaHP:0001310
  • Gait disturbanceHP:0001288
  • Generalized hypotoniaHP:0001290
  • Global developmental delayHP:0001263
  • HyperreflexiaHP:0001347
  • Pes planusHP:0001763
  • Progressive gait ataxiaHP:0007240
  • Short statureHP:0004322
  • SpasticityHP:0001257

Occasional (29-5%)(1)

  • Intention tremorHP:0002080