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Septo-optic dysplasia spectrum

ORPHA:3157 · Malformation syndrome · Disorder

HPO 表現型（共 33 項）

Very frequent (99-80%)(3)

  • Optic nerve hypoplasiaHP:0000609
  • Septo-optic dysplasiaHP:0100842
  • Visual impairmentHP:0000505

Frequent (79-30%)(12)

  • Abnormality of the hypothalamus-pituitary axisHP:0000864
  • Absent septum pellucidumHP:0001331
  • Agenesis of corpus callosumHP:0001274
  • Anterior pituitary hypoplasiaHP:0010627
  • Cleft palateHP:0000175
  • CryptorchidismHP:0000028
  • Hemiplegia/hemiparesisHP:0004374
  • Hypoplasia of penisHP:0008736
  • NystagmusHP:0000639
  • SeizureHP:0001250
  • Short statureHP:0004322
  • StrabismusHP:0000486

Occasional (29-5%)(18)

  • Abnormal cardiovascular system morphologyHP:0030680
  • AnosmiaHP:0000458
  • Aplasia/Hypoplasia of the cerebellumHP:0007360
  • AutismHP:0000717
  • ConstipationHP:0002019
  • Diabetes insipidusHP:0000873
  • Dry skinHP:0000958
  • Esophageal atresiaHP:0002032
  • FatigueHP:0012378
  • Global developmental delayHP:0001263
  • HypohidrosisHP:0000966
  • Intellectual disabilityHP:0001249
  • Maternal diabetesHP:0009800
  • ObesityHP:0001513
  • PolydipsiaHP:0001959
  • Sensorineural hearing impairmentHP:0000407
  • Sleep disturbanceHP:0002360
  • Tracheoesophageal fistulaHP:0002575