← 返回搜尋

Mohr-Tranebjaerg syndrome

ORPHA:52368 · Disease · Disorder

HPO 表現型（共 41 項）

Frequent (79-30%)(20)

  • Abnormal cochlea morphologyHP:0000375
  • Abnormal pyramidal signHP:0007256
  • Abnormal vestibular functionHP:0001751
  • Abnormality of somatosensory evoked potentialsHP:0007377
  • Abnormality of visual evoked potentialsHP:0000649
  • Absent brainstem auditory responsesHP:0004463
  • Ankle clonusHP:0011448
  • Atypical behaviorHP:0000708
  • Babinski signHP:0003487
  • DystoniaHP:0001332
  • Generalized dystoniaHP:0007325
  • Global brain atrophyHP:0002283
  • Hyperactive deep tendon reflexesHP:0006801
  • Mental deteriorationHP:0001268
  • Optic atrophyHP:0000648
  • Oromandibular dystoniaHP:0012048
  • Postlingual sensorineural hearing impairmentHP:0008596
  • Prelingual sensorineural hearing impairmentHP:0000399
  • Sensorineural hearing impairmentHP:0000407
  • Visual impairmentHP:0000505

Occasional (29-5%)(20)

  • AgammaglobulinemiaHP:0004432
  • ApraxiaHP:0002186
  • Aspiration pneumoniaHP:0011951
  • Caudate atrophyHP:0002340
  • Central scotomaHP:0000603
  • Cerebral visual impairmentHP:0100704
  • Color vision defectHP:0000551
  • DementiaHP:0000726
  • DysphagiaHP:0002015
  • Focal dystoniaHP:0004373
  • Inability to walkHP:0002540
  • ParanoiaHP:0011999
  • Peripheral neuropathyHP:0009830
  • Personality changesHP:0000751
  • PhotophobiaHP:0000613
  • Postural instabilityHP:0002172
  • Sensory neuropathyHP:0000763
  • Shuffling gaitHP:0002362
  • TremorHP:0001337
  • Visual lossHP:0000572

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

  • Attention deficit hyperactivity disorderHP:0007018