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Paternal uniparental disomy of chromosome X syndrome

ORPHA:261524 · Malformation syndrome · Disorder

HPO 表現型（共 18 項）

Very frequent (99-80%)(16)

  • Abnormality of chromosome segregationHP:0002916
  • Cubitus valgusHP:0002967
  • Decreased testicular sizeHP:0008734
  • Hypoplastic areolaHP:0100853
  • HypotoniaHP:0001252
  • InfertilityHP:0000789
  • Low posterior hairlineHP:0002162
  • MicropenisHP:0000054
  • Mild intellectual disabilityHP:0001256
  • Moderate global developmental delayHP:0011343
  • Posteriorly rotated earsHP:0000358
  • Shield chestHP:0000914
  • Short metacarpalHP:0010049
  • Short neckHP:0000470
  • Short statureHP:0004322
  • Wide intermamillary distanceHP:0006610

Frequent (79-30%)(2)

  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249