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Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome

ORPHA:3145 · Disease · Disorder

HPO 表現型（共 15 項）

Very frequent (99-80%)(13)

  • Abnormal antihelix morphologyHP:0009738
  • Abnormality of metabolism/homeostasisHP:0001939
  • Carious teethHP:0000670
  • Cerebral calcificationHP:0002514
  • Downslanted palpebral fissuresHP:0000494
  • Global developmental delayHP:0001263
  • Hypoplasia of the zygomatic boneHP:0010669
  • Intellectual disabilityHP:0001249
  • Limitation of joint mobilityHP:0001376
  • MicrognathiaHP:0000347
  • Nephrogenic diabetes insipidusHP:0009806
  • Short statureHP:0004322
  • Supernumerary toothHP:0011069

Frequent (79-30%)(2)

  • Conductive hearing impairmentHP:0000405
  • Delayed pubertyHP:0000823