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Sporadic infantile bilateral striatal necrosis

ORPHA:225147 · Disease · Disorder

HPO 表現型（共 38 項）

Frequent (79-30%)(10)

  • Abnormal posturingHP:0002533
  • Abnormality of movementHP:0100022
  • Axial hypotoniaHP:0008936
  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • Facial grimacingHP:0000273
  • Inappropriate cryingHP:0030215
  • Recurrent upper respiratory tract infectionsHP:0002788
  • SeizureHP:0001250
  • Specific learning disabilityHP:0001328

Occasional (29-5%)(28)

  • Atypical absence status epilepticusHP:0011151
  • Babinski signHP:0003487
  • BradykinesiaHP:0002067
  • ChoreaHP:0002072
  • DroolingHP:0002307
  • DystoniaHP:0001332
  • Floppy infantHP:0008947
  • Focal-onset seizureHP:0007359
  • Gait ataxiaHP:0002066
  • Gait disturbanceHP:0001288
  • HemiplegiaHP:0002301
  • HyperreflexiaHP:0001347
  • Hypomimic faceHP:0000338
  • Loss of consciousnessHP:0007185
  • Mask-like faciesHP:0000298
  • MutismHP:0002300
  • Nasogastric tube feedingHP:0040288
  • ParkinsonismHP:0001300
  • PharyngitisHP:0025439
  • Poor speechHP:0002465
  • Poor suckHP:0002033
  • Progressive extrapyramidal muscular rigidityHP:0007158
  • Recurrent streptococcus pneumoniae infectionsHP:0005366
  • Reduced consciousnessHP:0004372
  • Resting tremorHP:0002322
  • Short attention spanHP:0000736
  • TitubationHP:0030187
  • Urinary incontinenceHP:0000020