← 返回搜尋

Metachromatic leukodystrophy

ORPHA:512 · Disease · Disorder

HPO 表現型（共 45 項）

Very frequent (99-80%)(2)

  • Abnormal circulating enzyme concentration or activityHP:0012379
  • Periventricular leukomalaciaHP:0006970

Frequent (79-30%)(17)

  • Abnormality of visual evoked potentialsHP:0000649
  • AtaxiaHP:0001251
  • Decreased nerve conduction velocityHP:0000762
  • Developmental regressionHP:0002376
  • Floppy infantHP:0008947
  • Frequent fallsHP:0002359
  • Gait disturbanceHP:0001288
  • Hearing impairmentHP:0000365
  • Hyperintensity of cerebral white matter on MRIHP:0030890
  • HyporeflexiaHP:0001265
  • Increased CSF protein concentrationHP:0002922
  • Muscle spasmHP:0003394
  • Muscle weaknessHP:0001324
  • Peripheral neuropathyHP:0009830
  • Progressive spasticityHP:0002191
  • SeizureHP:0001250
  • Visual impairmentHP:0000505

Occasional (29-5%)(19)

  • Addictive behaviorHP:0030858
  • Atypical behaviorHP:0000708
  • Bowel incontinenceHP:0002607
  • DementiaHP:0000726
  • DysarthriaHP:0001260
  • DystoniaHP:0001332
  • Emotional labilityHP:0000712
  • Feeding difficultiesHP:0011968
  • Gastrostomy tube feeding in infancyHP:0011471
  • Impaired continenceHP:0031064
  • IncoordinationHP:0002311
  • Limb painHP:0009763
  • PainHP:0012531
  • Personality changesHP:0000751
  • PsychosisHP:0000709
  • SchizophreniaHP:0100753
  • Tip-toe gaitHP:0030051
  • TremorHP:0001337
  • Urinary incontinenceHP:0000020

Very rare (<4-1%)(7)

  • Abnormal duodenum morphologyHP:0002246
  • Abnormal gallbladder morphologyHP:0012437
  • Abnormal stomach morphologyHP:0002577
  • Decerebrate rigidityHP:0025013
  • HemobiliaHP:0100762
  • IntussusceptionHP:0002576
  • Neoplasm of the gallbladderHP:0100575