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DEND syndrome

ORPHA:79134 · Disease · Disorder

HPO 表現型（共 19 項）

Obligate (100%)(1)

  • HyperglycemiaHP:0003074

Very frequent (99-80%)(1)

  • Elevated hemoglobin A1cHP:0040217

Frequent (79-30%)(4)

  • Axial hypotoniaHP:0008936
  • Mild global developmental delayHP:0011342
  • Muscle weaknessHP:0001324
  • SeizureHP:0001250

Occasional (29-5%)(12)

  • Anteverted naresHP:0000463
  • Bilateral ptosisHP:0001488
  • Clinodactyly of the 4th fingerHP:0040025
  • DehydrationHP:0001944
  • Downturned corners of mouthHP:0002714
  • HypsarrhythmiaHP:0002521
  • Long philtrumHP:0000343
  • Peripheral neuropathyHP:0009830
  • Prominent metopic ridgeHP:0005487
  • Short noseHP:0003196
  • Thickened earsHP:0009894
  • VomitingHP:0002013

Excluded (0%)(1)

  • Autoimmune antibody positivityHP:0030057