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4H leukodystrophy

ORPHA:289494 · Disease · Disorder

HPO 表現型（共 32 項）

Very frequent (99-80%)(8)

  • Abnormality of the dentitionHP:0000164
  • AtaxiaHP:0001251
  • Cerebral hypomyelinationHP:0006808
  • DysarthriaHP:0001260
  • DystoniaHP:0001332
  • HypodontiaHP:0000668
  • Hypogonadotropic hypogonadismHP:0000044
  • MyopiaHP:0000545

Frequent (79-30%)(10)

  • Abnormality of extrapyramidal motor functionHP:0002071
  • Abnormality of eye movementHP:0000496
  • Delayed pubertyHP:0000823
  • DroolingHP:0002307
  • DysphagiaHP:0002015
  • Hyperintensity of cerebral white matter on MRIHP:0030890
  • Progressive gait ataxiaHP:0007240
  • Short statureHP:0004322
  • TremorHP:0001337
  • Upper motor neuron dysfunctionHP:0002493

Occasional (29-5%)(11)

  • Abnormal saccadic eye movementsHP:0000570
  • Abnormality of thyroid physiologyHP:0002926
  • Cerebellar atrophyHP:0001272
  • Decreased response to growth hormone stimulation testHP:0000824
  • Delayed eruption of teethHP:0000684
  • DysdiadochokinesisHP:0002075
  • DysmetriaHP:0001310
  • Gaze-evoked nystagmusHP:0000640
  • Hypoplasia of the corpus callosumHP:0002079
  • Mental deteriorationHP:0001268
  • SeizureHP:0001250

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

  • CataractHP:0000518
  • Optic atrophyHP:0000648
  • Striatal T2 hyperintensityHP:0031206