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Deafness-small bowel diverticulosis-neuropathy syndrome

ORPHA:3217 · Disease · Disorder

HPO 表現型（共 16 項）

Very frequent (99-80%)(8)

  • CachexiaHP:0004326
  • Chronic diarrheaHP:0002028
  • Duodenal ulcerHP:0002588
  • EMG abnormalityHP:0003457
  • HemiplegiaHP:0002301
  • MalabsorptionHP:0002024
  • Sensorineural hearing impairmentHP:0000407
  • SteatorrheaHP:0002570

Frequent (79-30%)(4)

  • Abnormal speech patternHP:0002167
  • Abnormality of the pharynxHP:0000600
  • HyporeflexiaHP:0001265
  • PtosisHP:0000508

Occasional (29-5%)(4)

  • Abnormality of eye movementHP:0000496
  • BrachydactylyHP:0001156
  • Cutaneous photosensitivityHP:0000992
  • Short palmHP:0004279