← 返回搜尋

Proximal Xq28 duplication syndrome

ORPHA:1762 · Malformation syndrome · Disorder

HPO 表現型（共 18 項）

Very frequent (99-80%)(14)

  • Abnormal speech patternHP:0002167
  • Abnormality of chromosome segregationHP:0002916
  • BlepharophimosisHP:0000581
  • CryptorchidismHP:0000028
  • Delayed skeletal maturationHP:0002750
  • EpicanthusHP:0000286
  • Everted lower lip vermilionHP:0000232
  • Global developmental delayHP:0001263
  • HypospadiasHP:0000047
  • PtosisHP:0000508
  • Severe global developmental delayHP:0011344
  • Severe intellectual disabilityHP:0010864
  • Short statureHP:0004322
  • Tented upper lip vermilionHP:0010804

Frequent (79-30%)(3)

  • Gait disturbanceHP:0001288
  • Hernia of the abdominal wallHP:0004299
  • Pectus excavatumHP:0000767

Occasional (29-5%)(1)

  • Joint stiffnessHP:0001387