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Wieacker-Wolff syndrome

ORPHA:3454 · Malformation syndrome · Disorder

HPO 表現型（共 14 項）

Very frequent (99-80%)(10)

  • Abnormal speech patternHP:0002167
  • Abnormality of eye movementHP:0000496
  • Abnormality of movementHP:0100022
  • Clinodactyly of the 5th fingerHP:0004209
  • Congenital foot contracturesHP:0005745
  • Distal amyotrophyHP:0003693
  • Global developmental delayHP:0001263
  • Limitation of joint mobilityHP:0001376
  • Mild intellectual disabilityHP:0001256
  • Oculomotor apraxiaHP:0000657

Occasional (29-5%)(4)

  • KyphosisHP:0002808
  • PtosisHP:0000508
  • ScoliosisHP:0002650
  • StrabismusHP:0000486