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Metachromatic leukodystrophy, late infantile form

ORPHA:309256 · Clinical subtype · Subtype of disorder

HPO 表現型（共 36 項）

Frequent (79-30%)(20)

  • ClumsinessHP:0002312
  • Decreased nerve conduction velocityHP:0000762
  • Developmental regressionHP:0002376
  • DysarthriaHP:0001260
  • DystoniaHP:0001332
  • EMG: chronic denervation signsHP:0003444
  • Frequent fallsHP:0002359
  • Gait ataxiaHP:0002066
  • Generalized hypotoniaHP:0001290
  • HyporeflexiaHP:0001265
  • Increased CSF protein concentrationHP:0002922
  • LeukodystrophyHP:0002415
  • Muscle weaknessHP:0001324
  • Optic atrophyHP:0000648
  • Progressive gait ataxiaHP:0007240
  • Progressive peripheral neuropathyHP:0007133
  • Punctate periventricular T2 hyperintense fociHP:0030081
  • SeizureHP:0001250
  • Tip-toe gaitHP:0030051
  • Urinary incontinenceHP:0000020

Occasional (29-5%)(14)

  • Abdominal distentionHP:0003270
  • Abnormal social behaviorHP:0012433
  • Abnormality of metabolism/homeostasisHP:0001939
  • Abnormality of visual evoked potentialsHP:0000649
  • Babinski signHP:0003487
  • Bilateral sensorineural hearing impairmentHP:0008619
  • CholecystitisHP:0001082
  • DelusionHP:0000746
  • Emotional labilityHP:0000712
  • Feeding difficulties in infancyHP:0008872
  • HallucinationsHP:0000738
  • Loss of speechHP:0002371
  • Reduced visual acuityHP:0007663
  • SpasticityHP:0001257

Very rare (<4-1%)(2)

  • Decerebrate rigidityHP:0025013
  • Vegetative stateHP:0031358