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Fragile X-associated tremor/ataxia syndrome

ORPHA:93256 · Malformation syndrome · Disorder

HPO 表現型（共 37 項）

Very frequent (99-80%)(10)

  • AtaxiaHP:0001251
  • Cerebral cortical atrophyHP:0002120
  • DementiaHP:0000726
  • DysarthriaHP:0001260
  • DysmetriaHP:0001310
  • Gait ataxiaHP:0002066
  • Gait disturbanceHP:0001288
  • InertiaHP:0030216
  • Intention tremorHP:0002080
  • Memory impairmentHP:0002354

Frequent (79-30%)(18)

  • Abnormal autonomic nervous system physiologyHP:0012332
  • AgitationHP:0000713
  • AnxietyHP:0000739
  • Compulsive behaviorsHP:0000722
  • DepressionHP:0000716
  • Diffuse cerebellar atrophyHP:0100275
  • DysesthesiaHP:0012534
  • HyporeflexiaHP:0001265
  • ImpotenceHP:0000802
  • IrritabilityHP:0000737
  • Lower limb muscle weaknessHP:0007340
  • Muscle weaknessHP:0001324
  • Peripheral neuropathyHP:0009830
  • PollakisuriaHP:0100515
  • Postural instabilityHP:0002172
  • RigidityHP:0002063
  • Ubiquitin-positive cerebral inclusion bodiesHP:0012083
  • Urinary bladder sphincter dysfunctionHP:0002839

Occasional (29-5%)(9)

  • Abnormal brainstem morphologyHP:0002363
  • Bowel incontinenceHP:0002607
  • BradykinesiaHP:0002067
  • DysphagiaHP:0002015
  • HypertensionHP:0000822
  • HypotensionHP:0002615
  • HypothyroidismHP:0000821
  • MyalgiaHP:0003326
  • ParkinsonismHP:0001300