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Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome

ORPHA:2057 · Malformation syndrome · Disorder

HPO 表現型（共 13 項）

Very frequent (99-80%)(8)

  • Abnormal cranial nerve morphologyHP:0001291
  • BlepharophimosisHP:0000581
  • EsotropiaHP:0000565
  • Highly arched eyebrowHP:0002553
  • Mandibular prognathiaHP:0000303
  • PtosisHP:0000508
  • SynophrysHP:0000664
  • Thick eyebrowHP:0000574

Frequent (79-30%)(1)

  • Short statureHP:0004322

Occasional (29-5%)(4)

  • AnosmiaHP:0000458
  • Borderline intellectual disabilityHP:0006889
  • HypertelorismHP:0000316
  • Thick lower lip vermilionHP:0000179