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Distal deletion 10p syndrome

ORPHA:1580 · Clinical group · Group of disorders

HPO 表現型（共 31 項）

Very frequent (99-80%)(5)

  • Convex nasal ridgeHP:0000444
  • CryptorchidismHP:0000028
  • Intellectual disabilityHP:0001249
  • Severe global developmental delayHP:0011344
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(16)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Bilateral single transverse palmar creasesHP:0007598
  • Clinodactyly of the 5th fingerHP:0004209
  • Downslanted palpebral fissuresHP:0000494
  • Hearing abnormalityHP:0000364
  • Hearing impairmentHP:0000365
  • HypertelorismHP:0000316
  • Hypoplastic toenailsHP:0001800
  • Intrauterine growth retardationHP:0001511
  • MacrotiaHP:0000400
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Posteriorly rotated earsHP:0000358
  • Short neckHP:0000470
  • Short statureHP:0004322
  • StrabismusHP:0000486

Occasional (29-5%)(10)

  • Abnormal fingernail morphologyHP:0001231
  • Abnormality of the elbowHP:0009811
  • Anal atresiaHP:0002023
  • Cleft palateHP:0000175
  • Ectopic anusHP:0004397
  • Hypoplasia of penisHP:0008736
  • Joint stiffnessHP:0001387
  • Non-midline cleft of the upper lipHP:0100335
  • Polycystic ovariesHP:0000147
  • Webbed neckHP:0000465