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Renpenning syndrome

ORPHA:3242 · Malformation syndrome · Disorder

HPO 表現型（共 42 項）

Very frequent (99-80%)(5)

  • CachexiaHP:0004326
  • Intellectual disabilityHP:0001249
  • MicrocephalyHP:0000252
  • Severe short statureHP:0003510
  • Skeletal muscle atrophyHP:0003202

Frequent (79-30%)(18)

  • Abnormal rib morphologyHP:0000772
  • AlopeciaHP:0001596
  • Decreased testicular sizeHP:0008734
  • EpicanthusHP:0000286
  • Growth delayHP:0001510
  • HypospadiasHP:0000047
  • Long faceHP:0000276
  • MacrotiaHP:0000400
  • Malar flatteningHP:0000272
  • Mandibular prognathiaHP:0000303
  • Narrow faceHP:0000275
  • Prominent noseHP:0000448
  • Round earHP:0100830
  • Short philtrumHP:0000322
  • Small faceHP:0000274
  • Sprengel anomalyHP:0000912
  • Thin eyebrowHP:0045074
  • Upslanted palpebral fissureHP:0000582

Occasional (29-5%)(19)

  • Abnormal hairshaft morphologyHP:0003328
  • Abnormal thumb morphologyHP:0001172
  • Anal atresiaHP:0002023
  • Broad columellaHP:0010761
  • CataractHP:0000518
  • Cleft palateHP:0000175
  • Clinodactyly of the 5th fingerHP:0004209
  • Diabetes mellitusHP:0000819
  • HeterotaxyHP:0030853
  • High hypermetropiaHP:0008499
  • High, narrow palateHP:0002705
  • Iris colobomaHP:0000612
  • Joint stiffnessHP:0001387
  • MacrodontiaHP:0001572
  • Narrow mouthHP:0000160
  • Pectus excavatumHP:0000767
  • SeizureHP:0001250
  • Sensorineural hearing impairmentHP:0000407
  • StrabismusHP:0000486