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Epiphyseal dysplasia-hearing loss-dysmorphism syndrome

ORPHA:1825 · Malformation syndrome · Disorder

HPO 表現型（共 25 項）

Very frequent (99-80%)(18)

  • Abnormal dermatoglyphicsHP:0007477
  • Abnormal thumb morphologyHP:0001172
  • Abnormality of the wristHP:0003019
  • Anteverted naresHP:0000463
  • Atypical behaviorHP:0000708
  • Delayed skeletal maturationHP:0002750
  • Depressed nasal bridgeHP:0005280
  • EpicanthusHP:0000286
  • Facial asymmetryHP:0000324
  • HypertelorismHP:0000316
  • Hypopigmented skin patchesHP:0001053
  • Intellectual disabilityHP:0001249
  • Proximal placement of thumbHP:0009623
  • SeizureHP:0001250
  • Sensorineural hearing impairmentHP:0000407
  • Short statureHP:0004322
  • Wide mouthHP:0000154
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(6)

  • Deep philtrumHP:0002002
  • Delayed pubertyHP:0000823
  • Finger syndactylyHP:0006101
  • Long philtrumHP:0000343
  • PtosisHP:0000508
  • ScoliosisHP:0002650

Occasional (29-5%)(1)

  • Abnormal localization of kidneyHP:0100542