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Infantile Krabbe disease

ORPHA:206436 · Clinical subtype · Subtype of disorder

HPO 表現型（共 70 項）

Very frequent (99-80%)(13)

  • Abnormal circulating enzyme concentration or activityHP:0012379
  • Abnormality of visual evoked potentialsHP:0000649
  • Functional motor deficitHP:0004302
  • HyperpyrexiaHP:0033031
  • Inappropriate cryingHP:0030215
  • Increased CSF protein concentrationHP:0002922
  • IrritabilityHP:0000737
  • Mental deteriorationHP:0001268
  • Progressive neurologic deteriorationHP:0002344
  • Reduced tissue galactocerebrosidase activityHP:0034322
  • Sensorimotor neuropathyHP:0007141
  • SpasticityHP:0001257
  • Unexplained feversHP:0001955

Frequent (79-30%)(13)

  • Abnormal periventricular white matter morphologyHP:0002518
  • Axial hypotoniaHP:0008936
  • Decreased nerve conduction velocityHP:0000762
  • Delayed brainstem auditory evoked response conduction timeHP:0004466
  • Elevated brain choline level by MRSHP:0012706
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Hand clenchingHP:0001188
  • Lower limb spasticityHP:0002061
  • Peripheral neuropathyHP:0009830
  • Psychomotor deteriorationHP:0002361
  • Reduced brain glutamate level by MRSHP:0031161
  • Reduced brain N-acetyl aspartate level by MRSHP:0012708

Occasional (29-5%)(39)

  • Abnormal heart rate variabilityHP:0031860
  • Ankle clonusHP:0011448
  • BlindnessHP:0000618
  • CachexiaHP:0004326
  • Decerebrate rigidityHP:0025013
  • Decorticate rigidityHP:0011444
  • Decreased head circumferenceHP:0040195
  • Diffuse cerebral atrophyHP:0002506
  • EncephalopathyHP:0001298
  • Gastroesophageal refluxHP:0002020
  • Generalized myoclonic seizureHP:0002123
  • Global developmental delayHP:0001263
  • Hearing impairmentHP:0000365
  • HydrocephalusHP:0000238
  • HyperesthesiaHP:0100963
  • HyperreflexiaHP:0001347
  • Hypointensity of cerebral white matter on MRIHP:0007103
  • HyporeflexiaHP:0001265
  • Increased head circumferenceHP:0040194
  • Increased intracranial pressureHP:0002516
  • Muscle spasmHP:0003394
  • Muscle stiffnessHP:0003552
  • Muscle weaknessHP:0001324
  • MyoclonusHP:0001336
  • Nasogastric tube feeding in infancyHP:0011470
  • OpisthotonusHP:0002179
  • Optic atrophyHP:0000648
  • PhotophobiaHP:0000613
  • Poor head controlHP:0002421
  • Recurrent infectionsHP:0002719
  • Respiratory distressHP:0002098
  • Respiratory failureHP:0002878
  • SeizureHP:0001250
  • Shoulder girdle muscle weaknessHP:0003547
  • Slow pupillary light responseHP:0030211
  • Temperature instabilityHP:0005968
  • Visual lossHP:0000572
  • VomitingHP:0002013
  • Weight lossHP:0001824

Very rare (<4-1%)(5)

  • Cherry red spot of the maculaHP:0010729
  • Hypopigmented skin patchesHP:0001053
  • LaryngomalaciaHP:0001601
  • Neck muscle weaknessHP:0000467
  • Spastic diplegiaHP:0001264