← 返回搜尋

Abruzzo-Erickson syndrome

ORPHA:921 · Malformation syndrome · Disorder

HPO 表現型（共 24 項）

Very frequent (99-80%)(6)

  • Cleft palateHP:0000175
  • Coronal hypospadiasHP:0008743
  • Flat faceHP:0012368
  • HypospadiasHP:0000047
  • MacrotiaHP:0000400
  • Malar flatteningHP:0000272

Frequent (79-30%)(8)

  • Abnormal palate morphologyHP:0000174
  • Chorioretinal colobomaHP:0000567
  • ColobomaHP:0000589
  • Iris colobomaHP:0000612
  • Radioulnar synostosisHP:0002974
  • Sensorineural hearing impairmentHP:0000407
  • Short statureHP:0004322
  • Ulnar deviation of fingerHP:0009465

Occasional (29-5%)(10)

  • Abnormal localization of kidneyHP:0100542
  • Atrial septal defectHP:0001631
  • BrachydactylyHP:0001156
  • Conductive hearing impairmentHP:0000405
  • CryptorchidismHP:0000028
  • Dimple chinHP:0010751
  • EpicanthusHP:0000286
  • MicrocorneaHP:0000482
  • Short toeHP:0001831
  • Toe syndactylyHP:0001770