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X-linked cerebral adrenoleukodystrophy

ORPHA:139396 · Clinical subtype · Subtype of disorder

HPO 表現型（共 50 項）

Very frequent (99-80%)(8)

  • CNS demyelinationHP:0007305
  • Decreased circulating cortisol levelHP:0008163
  • Diffuse demyelination of the cerebral white matterHP:0007162
  • Mental deteriorationHP:0001268
  • MyelopathyHP:0002196
  • Peripheral neuropathyHP:0009830
  • Primary adrenal insufficiencyHP:0008207
  • Very long chain fatty acid accumulationHP:0008167

Frequent (79-30%)(10)

  • Abnormal brainstem white matter morphologyHP:0012501
  • Abnormal circulating fatty acid concentrationHP:0004359
  • Abnormal periventricular white matter morphologyHP:0002518
  • Abnormal spinal cord morphologyHP:0002143
  • Atypical behaviorHP:0000708
  • Functional motor deficitHP:0004302
  • Global brain atrophyHP:0002283
  • Peripheral axonal neuropathyHP:0003477
  • Sensorimotor neuropathyHP:0007141
  • Specific learning disabilityHP:0001328

Occasional (29-5%)(29)

  • Abnormal speech patternHP:0002167
  • Ankle clonusHP:0011448
  • ApraxiaHP:0002186
  • AstereognosisHP:0010527
  • AtaxiaHP:0001251
  • ConfusionHP:0001289
  • DysarthriaHP:0001260
  • DysmetriaHP:0001310
  • DysphagiaHP:0002015
  • Facial myokymiaHP:0000317
  • Gait disturbanceHP:0001288
  • Generalized hyperreflexiaHP:0007034
  • Hamstring contracturesHP:0003089
  • Hearing impairmentHP:0000365
  • HemiparesisHP:0001269
  • Hoffmann signHP:0031993
  • HyperactivityHP:0000752
  • Impaired visuospatial constructive cognitionHP:0010794
  • Limb myoclonusHP:0045084
  • Lower limb spasticityHP:0002061
  • Male hypogonadismHP:0000026
  • Memory impairmentHP:0002354
  • Nasogastric tube feedingHP:0040288
  • Oculomotor apraxiaHP:0000657
  • Reduced visual acuityHP:0007663
  • SeizureHP:0001250
  • Short attention spanHP:0000736
  • Spastic tetraparesisHP:0001285
  • Visual agnosiaHP:0030222

Very rare (<4-1%)(3)

  • BlindnessHP:0000618
  • Inability to walkHP:0002540
  • Vegetative stateHP:0031358