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Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome

ORPHA:363429 · Disease · Disorder

HPO 表現型（共 32 項）

Very frequent (99-80%)(4)

  • Abnormal pyramidal signHP:0007256
  • NystagmusHP:0000639
  • Oculomotor apraxiaHP:0000657
  • Progressive cerebellar ataxiaHP:0002073

Frequent (79-30%)(21)

  • Broad-based gaitHP:0002136
  • Diffuse cerebellar atrophyHP:0100275
  • DysdiadochokinesisHP:0002075
  • DysmetriaHP:0001310
  • EsotropiaHP:0000565
  • Gait disturbanceHP:0001288
  • Generalized hypotoniaHP:0001290
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • Horizontal nystagmusHP:0000666
  • Hypometric saccadesHP:0000571
  • Mild intellectual disabilityHP:0001256
  • Optic disc pallorHP:0000543
  • Pes planusHP:0001763
  • Progressive gait ataxiaHP:0007240
  • Progressive truncal ataxiaHP:0007221
  • PtosisHP:0000508
  • Rotary nystagmusHP:0001583
  • Short statureHP:0004322
  • Spastic dysarthriaHP:0002464
  • VentriculomegalyHP:0002119

Occasional (29-5%)(6)

  • Babinski signHP:0003487
  • HyperreflexiaHP:0001347
  • Multiple joint contracturesHP:0002828
  • Poor speechHP:0002465
  • Retrocerebellar cystHP:0006951
  • Severe intellectual disabilityHP:0010864

Excluded (0%)(1)

  • SeizureHP:0001250