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Microtriplication 11q24.1 syndrome

ORPHA:289522 · Malformation syndrome · Disorder

HPO 表現型（共 39 項）

Very frequent (99-80%)(31)

  • Abnormal facial shapeHP:0001999
  • Attached earlobeHP:0009907
  • Broad chinHP:0011822
  • BruxismHP:0003763
  • Clinodactyly of the 5th fingerHP:0004209
  • Coarse facial featuresHP:0000280
  • Delayed speech and language developmentHP:0000750
  • Genu valgumHP:0002857
  • Hyperkinetic movementsHP:0002487
  • HyperlipidemiaHP:0003077
  • HypertelorismHP:0000316
  • Intellectual disabilityHP:0001249
  • Irregularly spaced teethHP:0006316
  • Joint dislocationHP:0001373
  • KeratoconusHP:0000563
  • Limitation of joint mobilityHP:0001376
  • Long eyelashesHP:0000527
  • Metatarsus adductusHP:0001840
  • ObesityHP:0001513
  • Posteriorly rotated earsHP:0000358
  • Short footHP:0001773
  • Short philtrumHP:0000322
  • Short statureHP:0004322
  • Small handHP:0200055
  • Smooth philtrumHP:0000319
  • Speech apraxiaHP:0011098
  • SynophrysHP:0000664
  • Talipes equinovarusHP:0001762
  • Thick eyebrowHP:0000574
  • Upslanted palpebral fissureHP:0000582
  • Wide noseHP:0000445

Frequent (79-30%)(7)

  • Cleft palateHP:0000175
  • Generalized hypotoniaHP:0001290
  • Hearing impairmentHP:0000365
  • MicrocephalyHP:0000252
  • Retrocerebellar cystHP:0006951
  • ScoliosisHP:0002650
  • Short neckHP:0000470

Excluded (0%)(1)

  • SeizureHP:0001250