← 返回搜尋

XY type gonadal dysgenesis-associated anomalies syndrome

ORPHA:1770 · Malformation syndrome · Disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(16)

  • Abnormal hair patternHP:0010720
  • Abnormality of the ureterHP:0000069
  • Atresia of the external auditory canalHP:0000413
  • Bilateral single transverse palmar creasesHP:0007598
  • Biparietal narrowingHP:0004422
  • BrachydactylyHP:0001156
  • Broad thumbHP:0011304
  • Delayed skeletal maturationHP:0002750
  • Gonadal dysgenesisHP:0000133
  • Large handsHP:0001176
  • Mild global developmental delayHP:0011342
  • Mild intellectual disabilityHP:0001256
  • Polycystic ovariesHP:0000147
  • Preauricular pitHP:0004467
  • Umbilical herniaHP:0001537
  • Ventricular septal defectHP:0001629

Frequent (79-30%)(10)

  • Abnormality of the philtrumHP:0000288
  • Cleft palateHP:0000175
  • Downslanted palpebral fissuresHP:0000494
  • EpicanthusHP:0000286
  • MicrotiaHP:0008551
  • Non-midline cleft of the upper lipHP:0100335
  • Posteriorly rotated earsHP:0000358
  • Renal hypoplasia/aplasiaHP:0008678
  • Short columellaHP:0002000
  • Short statureHP:0004322