← 返回搜尋

Neuroferritinopathy

ORPHA:157846 · Disease · Disorder

HPO 表現型（共 43 項）

Very frequent (99-80%)(5)

  • Abnormal basal ganglia morphologyHP:0002134
  • Cognitive impairmentHP:0100543
  • Decreased circulating ferritin concentrationHP:0012343
  • DystoniaHP:0001332
  • Iron accumulation in brainHP:0012675

Frequent (79-30%)(19)

  • Abnormal caudate nucleus morphologyHP:0002339
  • Abnormal dentate nucleus morphologyHP:0100321
  • Abnormal putamen morphologyHP:0031982
  • Abnormal thalamic MRI signal intensityHP:0012696
  • BradykinesiaHP:0002067
  • ChoreaHP:0002072
  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • DysphoniaHP:0001618
  • Emotional labilityHP:0000712
  • Eye of the tiger anomaly of globus pallidusHP:0002454
  • Focal dystoniaHP:0004373
  • Gait disturbanceHP:0001288
  • Hypomimic faceHP:0000338
  • Involuntary movementsHP:0004305
  • Iron accumulation in substantia nigraHP:0012678
  • Leg dystoniaHP:0031959
  • Orofacial dyskinesiaHP:0002310
  • T2 hypointense thalamusHP:0012690

Occasional (29-5%)(12)

  • Arm dystoniaHP:0031960
  • BlepharospasmHP:0000643
  • Brisk reflexesHP:0001348
  • Caudate atrophyHP:0002340
  • Impaired smooth pursuitHP:0007772
  • Loss of voiceHP:0001686
  • Lower limb hyperreflexiaHP:0002395
  • Palatal tremorHP:0010530
  • ParkinsonismHP:0001300
  • Upper limb hyperreflexiaHP:0007350
  • Weak voiceHP:0001621
  • Writer's crampHP:0002356

Very rare (<4-1%)(7)

  • Babinski signHP:0003487
  • Frontal lobe dementiaHP:0000727
  • Increased CSF protein concentrationHP:0002922
  • PsychosisHP:0000709
  • Resting tremorHP:0002322
  • Subcortical dementiaHP:0007123
  • Upgaze palsyHP:0025331