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15q overgrowth syndrome

ORPHA:314585 · Malformation syndrome · Disorder

HPO 表現型（共 64 項）

Very frequent (99-80%)(29)

  • Abnormal facial shapeHP:0001999
  • Abnormal renal morphologyHP:0012210
  • Abnormality of the outer earHP:0000356
  • ArachnodactylyHP:0001166
  • Coarse facial featuresHP:0000280
  • Contracture of the proximal interphalangeal joint of the 2nd fingerHP:0009540
  • Contracture of the proximal interphalangeal joint of the 3rd fingerHP:0009471
  • CraniosynostosisHP:0001363
  • Disproportionate tall statureHP:0001519
  • Downslanted palpebral fissuresHP:0000494
  • Early-onset non-progressive night blindnessHP:0007642
  • High palateHP:0000218
  • High, narrow palateHP:0002705
  • Horseshoe kidneyHP:0000085
  • HydronephrosisHP:0000126
  • HypertelorismHP:0000316
  • Intrauterine growth retardationHP:0001511
  • Joint hypermobilityHP:0001382
  • Low-set earsHP:0000369
  • MicrognathiaHP:0000347
  • MicroretrognathiaHP:0000308
  • Motor delayHP:0001270
  • Neonatal hypotoniaHP:0001319
  • Neurodevelopmental delayHP:0012758
  • OvergrowthHP:0001548
  • Posteriorly rotated earsHP:0000358
  • RetrognathiaHP:0000278
  • TelecanthusHP:0000506
  • Ureterovesical stenosisHP:0008714

Occasional (29-5%)(35)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal coccyx morphologyHP:0008519
  • Abnormal finger flexion creaseHP:0006143
  • Abnormal sternum morphologyHP:0000766
  • Abnormality of the falx cerebriHP:0010653
  • Abnormality of the incisorHP:0000676
  • Agenesis of corpus callosumHP:0001274
  • Bifid uvulaHP:0000193
  • Brain atrophyHP:0012444
  • Breech presentationHP:0001623
  • Clinodactyly of the 5th fingerHP:0004209
  • Dandy-Walker malformationHP:0001305
  • Dental crowdingHP:0000678
  • DolichocephalyHP:0000268
  • HeadacheHP:0002315
  • HydrocephalusHP:0000238
  • HyperreflexiaHP:0001347
  • Large handsHP:0001176
  • MacrocephalyHP:0000256
  • Malar flatteningHP:0000272
  • Mandibular prognathiaHP:0000303
  • Mitral regurgitationHP:0001653
  • Mixed hearing impairmentHP:0000410
  • NephroblastomaHP:0002667
  • Overlapping toeHP:0001845
  • Pulmonary arterial hypertensionHP:0002092
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Smooth philtrumHP:0000319
  • StrabismusHP:0000486
  • SyringomyeliaHP:0003396
  • Tricuspid regurgitationHP:0005180
  • TurricephalyHP:0000262
  • Wide intermamillary distanceHP:0006610
  • Wide nasal bridgeHP:0000431