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Piebald trait-neurologic defects syndrome

ORPHA:2885 · Malformation syndrome · Disorder

HPO 表現型（共 14 項）

Very frequent (99-80%)(4)

  • Cutaneous photosensitivityHP:0000992
  • Hypopigmentation of hairHP:0005599
  • Hypopigmented skin patchesHP:0001053
  • PoikilodermaHP:0001029

Frequent (79-30%)(6)

  • Abnormal eyebrow morphologyHP:0000534
  • AtaxiaHP:0001251
  • Intellectual disabilityHP:0001249
  • Irregular hyperpigmentationHP:0007400
  • MaculeHP:0012733
  • Sensorineural hearing impairmentHP:0000407

Occasional (29-5%)(4)

  • Abnormal eyelash morphologyHP:0000499
  • Aganglionic megacolonHP:0002251
  • Heterochromia iridisHP:0001100
  • Neoplasm of the skinHP:0008069