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Autosomal recessive cerebellar ataxia due to STUB1 deficiency

ORPHA:412057 · Disease · Disorder

HPO 表現型（共 54 項）

Very frequent (99-80%)(4)

  • Cerebellar atrophyHP:0001272
  • DysarthriaHP:0001260
  • Limb ataxiaHP:0002070
  • Truncal ataxiaHP:0002078

Frequent (79-30%)(9)

  • Abnormal motor evoked potentialsHP:0012896
  • Adducted thumbHP:0001181
  • ArachnodactylyHP:0001166
  • Gait disturbanceHP:0001288
  • HyperreflexiaHP:0001347
  • Impaired proprioceptionHP:0010831
  • Postural instabilityHP:0002172
  • Progeroid facial appearanceHP:0005328
  • Unsteady gaitHP:0002317

Occasional (29-5%)(24)

  • Abnormal speech patternHP:0002167
  • Ankle clonusHP:0011448
  • Cerebellar hypoplasiaHP:0001321
  • Cognitive impairmentHP:0100543
  • Corpus callosum atrophyHP:0007371
  • Distal amyotrophyHP:0003693
  • DysphagiaHP:0002015
  • Gaze-evoked nystagmusHP:0000640
  • Global developmental delayHP:0001263
  • Hand tremorHP:0002378
  • Head tremorHP:0002346
  • Hearing impairmentHP:0000365
  • Horizontal nystagmusHP:0000666
  • Hyperactive deep tendon reflexesHP:0006801
  • HypogonadismHP:0000135
  • Hypoplasia of the ponsHP:0012110
  • Lower limb spasticityHP:0002061
  • Memory impairmentHP:0002354
  • NystagmusHP:0000639
  • OphthalmoplegiaHP:0000602
  • Parietal cortical atrophyHP:0012104
  • Postural tremorHP:0002174
  • RigidityHP:0002063
  • Speech apraxiaHP:0011098

Very rare (<4-1%)(17)

  • Abnormal facial shapeHP:0001999
  • Abnormal involuntary eye movementsHP:0012547
  • Abnormal sella turcica morphologyHP:0002679
  • AlopeciaHP:0001596
  • Delayed menarcheHP:0012569
  • GlaucomaHP:0000501
  • HypothyroidismHP:0000821
  • InfertilityHP:0000789
  • IridocyclitisHP:0001094
  • Oculomotor apraxiaHP:0000657
  • OligomenorrheaHP:0000876
  • PancreatitisHP:0001733
  • Retinal atrophyHP:0001105
  • Saccadic smooth pursuit interruptionsHP:0001152
  • SeizureHP:0001250
  • Type I diabetes mellitusHP:0100651
  • Type II diabetes mellitusHP:0005978