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Krabbe disease

ORPHA:487 · Disease · Disorder

HPO 表現型（共 49 項）

Very frequent (99-80%)(16)

  • Abnormal thumb morphologyHP:0001172
  • Abnormality of metabolism/homeostasisHP:0001939
  • Aplasia/Hypoplasia of the abdominal wall musculatureHP:0010318
  • AtaxiaHP:0001251
  • Atypical behaviorHP:0000708
  • Cloverleaf skullHP:0002676
  • EMG abnormalityHP:0003457
  • Feeding difficultiesHP:0011968
  • Global developmental delayHP:0001263
  • Hearing impairmentHP:0000365
  • Peripheral neuropathyHP:0009830
  • Reduced tissue galactocerebrosidase activityHP:0034322
  • Sensorineural hearing impairmentHP:0000407
  • Sensory neuropathyHP:0000763
  • SpasticityHP:0001257
  • Visual impairmentHP:0000505

Frequent (79-30%)(12)

  • Abnormality of peripheral nerve conductionHP:0003134
  • Developmental regressionHP:0002376
  • Failure to thriveHP:0001508
  • FeverHP:0001945
  • Generalized myoclonic seizureHP:0002123
  • Hemiplegia/hemiparesisHP:0004374
  • HyperpyrexiaHP:0033031
  • IrritabilityHP:0000737
  • Recurrent respiratory infectionsHP:0002205
  • SeizureHP:0001250
  • Spastic paraparesisHP:0002313
  • VomitingHP:0002013

Occasional (29-5%)(21)

  • BlindnessHP:0000618
  • ClumsinessHP:0002312
  • Decerebrate rigidityHP:0025013
  • Erectile dysfunctionHP:0100639
  • Frequent fallsHP:0002359
  • Gait disturbanceHP:0001288
  • Hand clenchingHP:0001188
  • HyperesthesiaHP:0100963
  • HyporeflexiaHP:0001265
  • Increased CSF protein concentrationHP:0002922
  • Muscle weaknessHP:0001324
  • MyoclonusHP:0001336
  • OpisthotonusHP:0002179
  • Optic atrophyHP:0000648
  • Pes cavusHP:0001761
  • Poor head controlHP:0002421
  • Respiratory failureHP:0002878
  • Slow pupillary light responseHP:0030211
  • TetraplegiaHP:0002445
  • Urinary incontinenceHP:0000020
  • Weight lossHP:0001824