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Distal limb deficiencies-micrognathia syndrome

ORPHA:1307 · Malformation syndrome · Disorder

HPO 表現型（共 30 項）

Very frequent (99-80%)(7)

  • Abnormal metacarpal morphologyHP:0005916
  • Abnormality of chromosome segregationHP:0002916
  • Abnormality of the ankleHP:0003028
  • Hypoplasia of the maxillaHP:0000327
  • MicroretrognathiaHP:0000308
  • OligodactylyHP:0012165
  • Posteriorly rotated earsHP:0000358

Frequent (79-30%)(12)

  • Abnormality of the wristHP:0003019
  • Aplasia/Hypoplasia of the radiusHP:0006501
  • Aplasia/Hypoplasia of the thumbHP:0009601
  • Conductive hearing impairmentHP:0000405
  • CryptorchidismHP:0000028
  • High palateHP:0000218
  • Moderate intellectual disabilityHP:0002342
  • MyopiaHP:0000545
  • Narrow mouthHP:0000160
  • ProteinuriaHP:0000093
  • Renal hypoplasiaHP:0000089
  • Renal insufficiencyHP:0000083

Occasional (29-5%)(11)

  • Abnormal morphology of ulnaHP:0040071
  • Cleft palateHP:0000175
  • MacrocephalyHP:0000256
  • MicrodontiaHP:0000691
  • MicroglossiaHP:0000171
  • NystagmusHP:0000639
  • Prominent nasal bridgeHP:0000426
  • Sensorineural hearing impairmentHP:0000407
  • Short statureHP:0004322
  • Split footHP:0001839
  • Tarsal synostosisHP:0008368