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Tremor-ataxia-central hypomyelination syndrome

ORPHA:447896 · Clinical subtype · Subtype of disorder

HPO 表現型（共 41 項）

Frequent (79-30%)(33)

  • Abnormal basal ganglia morphologyHP:0002134
  • Abnormality of ocular smooth pursuitHP:0000617
  • AtaxiaHP:0001251
  • Autonomic bladder dysfunctionHP:0005341
  • Babinski signHP:0003487
  • Cerebellar hypoplasiaHP:0001321
  • ClumsinessHP:0002312
  • CNS hypomyelinationHP:0003429
  • Delayed eruption of teethHP:0000684
  • Delayed pubertyHP:0000823
  • Developmental regressionHP:0002376
  • DysmetriaHP:0001310
  • DysphagiaHP:0002015
  • DystoniaHP:0001332
  • Global developmental delayHP:0001263
  • High myoinositol in brain by MRSHP:0025460
  • HyperreflexiaHP:0001347
  • HypodontiaHP:0000668
  • Hypogonadotropic hypogonadismHP:0000044
  • Hypoplasia of the corpus callosumHP:0002079
  • Intention tremorHP:0002080
  • LeukodystrophyHP:0002415
  • Mild intellectual disabilityHP:0001256
  • MyopiaHP:0000545
  • NystagmusHP:0000639
  • OligodontiaHP:0000677
  • Positive Romberg signHP:0002403
  • Postural tremorHP:0002174
  • Short statureHP:0004322
  • Spastic dysarthriaHP:0002464
  • SpasticityHP:0001257
  • Upper motor neuron dysfunctionHP:0002493
  • Vertical supranuclear gaze palsyHP:0000511

Occasional (29-5%)(6)

  • Cerebral cortical atrophyHP:0002120
  • DroolingHP:0002307
  • Impaired distal proprioceptionHP:0006858
  • Impaired vibration sensation in the lower limbsHP:0002166
  • Optic atrophyHP:0000648
  • Peripheral neuropathyHP:0009830

Very rare (<4-1%)(2)

  • Deeply set eyeHP:0000490
  • Focal-onset seizureHP:0007359