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8p11.2 deletion syndrome

ORPHA:251066 · Malformation syndrome · Disorder

HPO 表現型（共 36 項）

Very frequent (99-80%)(11)

  • Abnormality of the hypothalamus-pituitary axisHP:0000864
  • CryptorchidismHP:0000028
  • Global developmental delayHP:0001263
  • Hemolytic anemiaHP:0001878
  • HypogonadismHP:0000135
  • Hypogonadotropic hypogonadismHP:0000044
  • Hypoplasia of penisHP:0008736
  • Intellectual disabilityHP:0001249
  • MicrognathiaHP:0000347
  • Short statureHP:0004322
  • SpherocytosisHP:0004444

Frequent (79-30%)(6)

  • Abnormal pinna morphologyHP:0000377
  • AzoospermiaHP:0000027
  • High palateHP:0000218
  • MicrocephalyHP:0000252
  • NystagmusHP:0000639
  • Preauricular pitHP:0004467

Occasional (29-5%)(19)

  • AnosmiaHP:0000458
  • Atrial septal defectHP:0001631
  • BlepharophimosisHP:0000581
  • Depressed nasal bridgeHP:0005280
  • EpicanthusHP:0000286
  • Feeding difficultiesHP:0011968
  • Growth delayHP:0001510
  • HypertelorismHP:0000316
  • Iris colobomaHP:0000612
  • MicrocorneaHP:0000482
  • Mitral valve prolapseHP:0001634
  • Patent ductus arteriosusHP:0001643
  • Retinal dystrophyHP:0000556
  • Sacral dimpleHP:0000960
  • SeizureHP:0001250
  • SplenomegalyHP:0001744
  • Supernumerary ribsHP:0005815
  • Talipes equinovarusHP:0001762
  • Upslanted palpebral fissureHP:0000582