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Baller-Gerold syndrome

ORPHA:1225 · Malformation syndrome · Disorder

HPO 表現型（共 43 項）

Very frequent (99-80%)(11)

  • Aplasia/Hypoplasia of the radiusHP:0006501
  • Aplasia/Hypoplasia of the thumbHP:0009601
  • BrachycephalyHP:0000248
  • BrachyturricephalyHP:0000244
  • Failure to thrive in infancyHP:0001531
  • Finger aplasiaHP:0009380
  • Frontal bossingHP:0002007
  • Growth delayHP:0001510
  • Large fontanellesHP:0000239
  • ProptosisHP:0000520
  • Short statureHP:0004322

Frequent (79-30%)(10)

  • Abnormal carpal morphologyHP:0001191
  • Abnormal metacarpal morphologyHP:0005916
  • Anteriorly placed anusHP:0001545
  • Aplasia/Hypoplasia of the patellaHP:0006498
  • Bowing of the long bonesHP:0006487
  • High palateHP:0000218
  • Intrauterine growth retardationHP:0001511
  • MalabsorptionHP:0002024
  • Narrow mouthHP:0000160
  • Short noseHP:0003196

Occasional (29-5%)(22)

  • Abnormal cardiac septum morphologyHP:0001671
  • Abnormal localization of kidneyHP:0100542
  • Abnormality of the ureterHP:0000069
  • Anal atresiaHP:0002023
  • Broad foreheadHP:0000337
  • Cleft palateHP:0000175
  • Conductive hearing impairmentHP:0000405
  • EpicanthusHP:0000286
  • HydronephrosisHP:0000126
  • HypertelorismHP:0000316
  • HypotelorismHP:0000601
  • LymphomaHP:0002665
  • MicrognathiaHP:0000347
  • Narrow faceHP:0000275
  • Narrow nasal bridgeHP:0000446
  • NystagmusHP:0000639
  • OsteosarcomaHP:0002669
  • PoikilodermaHP:0001029
  • Prominent nasal bridgeHP:0000426
  • ScoliosisHP:0002650
  • Urogenital fistulaHP:0100589
  • Vesicoureteral refluxHP:0000076