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Distal triplication 15q syndrome

ORPHA:314588 · Etiological subtype · Subtype of disorder

HPO 表現型（共 45 項）

Very frequent (99-80%)(4)

  • Abnormal facial shapeHP:0001999
  • Global developmental delayHP:0001263
  • Growth abnormalityHP:0001507
  • High palateHP:0000218

Frequent (79-30%)(13)

  • Abnormal skull morphologyHP:0000929
  • Abnormality of the kidneyHP:0000077
  • Birth length greater than 97th percentileHP:0003517
  • CraniosynostosisHP:0001363
  • HydronephrosisHP:0000126
  • HypertelorismHP:0000316
  • HypotoniaHP:0001252
  • Large for gestational ageHP:0001520
  • Low-set earsHP:0000369
  • MicrognathiaHP:0000347
  • RetrognathiaHP:0000278
  • Specific learning disabilityHP:0001328
  • TelecanthusHP:0000506

Occasional (29-5%)(28)

  • Abnormal external genitalia morphologyHP:0000811
  • Abnormal heart morphologyHP:0001627
  • Abnormal helix morphologyHP:0011039
  • Abnormal sternum morphologyHP:0000766
  • ArachnodactylyHP:0001166
  • Atrial septal defectHP:0001631
  • CamptodactylyHP:0012385
  • Corneal dystrophyHP:0001131
  • Cupped earHP:0000378
  • Dandy-Walker malformationHP:0001305
  • Dilatation of the renal pelvisHP:0010946
  • Flexion contractureHP:0001371
  • HerniaHP:0100790
  • Horseshoe kidneyHP:0000085
  • Hydrocele testisHP:0000034
  • HydrocephalusHP:0000238
  • Hypoplastic aortic archHP:0012304
  • Intrauterine growth retardationHP:0001511
  • KyphosisHP:0002808
  • MicrotiaHP:0008551
  • NephroblastomaHP:0002667
  • Patent ductus arteriosusHP:0001643
  • Polycystic kidney dysplasiaHP:0000113
  • Pulmonary hypoplasiaHP:0002089
  • ScoliosisHP:0002650
  • Sensorineural hearing impairmentHP:0000407
  • StrabismusHP:0000486
  • SyringomyeliaHP:0003396