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Neonatal adrenoleukodystrophy

ORPHA:44 · Disease · Disorder

HPO 表現型（共 29 項）

Very frequent (99-80%)(21)

  • Abnormal palate morphologyHP:0000174
  • Abnormality of metabolism/homeostasisHP:0001939
  • Abnormality of movementHP:0100022
  • Abnormality of the liverHP:0001392
  • Anteverted naresHP:0000463
  • Developmental regressionHP:0002376
  • DolichocephalyHP:0000268
  • EEG abnormalityHP:0002353
  • High foreheadHP:0000348
  • HyperreflexiaHP:0001347
  • HypotoniaHP:0001252
  • NystagmusHP:0000639
  • Optic atrophyHP:0000648
  • Posteriorly rotated earsHP:0000358
  • Primary adrenal insufficiencyHP:0008207
  • SeizureHP:0001250
  • Sensorineural hearing impairmentHP:0000407
  • Severe global developmental delayHP:0011344
  • Short statureHP:0004322
  • StrabismusHP:0000486
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(8)

  • Abnormal retinal pigmentationHP:0007703
  • Abnormality of neuronal migrationHP:0002269
  • Bilateral single transverse palmar creasesHP:0007598
  • CataractHP:0000518
  • MacrocephalyHP:0000256
  • PtosisHP:0000508
  • Visual impairmentHP:0000505
  • Wide anterior fontanelHP:0000260