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Deafness-vitiligo-achalasia syndrome

ORPHA:3239 · Malformation syndrome · Disorder

HPO 表現型（共 6 項）

Very frequent (99-80%)(6)

  • AchalasiaHP:0002571
  • EEG abnormalityHP:0002353
  • Hypopigmented skin patchesHP:0001053
  • Sensorineural hearing impairmentHP:0000407
  • Severe short statureHP:0003510
  • Skeletal muscle atrophyHP:0003202