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Feingold syndrome type 1

ORPHA:391641 · Clinical subtype · Subtype of disorder

HPO 表現型(共 35 項)

Very frequent (99-80%)(4)

  • Gastrointestinal atresiaHP:0002589
  • MicrocephalyHP:0000252
  • Short middle phalanx of fingerHP:0005819
  • Toe syndactylyHP:0001770

Frequent (79-30%)(11)

  • 2-3 toe syndactylyHP:0004691
  • 4-5 toe syndactylyHP:0004692
  • Abnormal facial shapeHP:0001999
  • Clinodactyly of the 5th fingerHP:0004209
  • Esophageal atresiaHP:0002032
  • MicrognathiaHP:0000347
  • Short middle phalanx of the 2nd fingerHP:0009577
  • Short middle phalanx of the 5th fingerHP:0004220
  • Short palpebral fissureHP:0012745
  • Short thumbHP:0009778
  • Specific learning disabilityHP:0001328

Occasional (29-5%)(16)

  • Abnormal heart morphologyHP:0001627
  • Abnormality of the kidneyHP:0000077
  • Conductive hearing impairmentHP:0000405
  • Duodenal atresiaHP:0002247
  • Horseshoe kidneyHP:0000085
  • HydronephrosisHP:0000126
  • Interrupted aortic archHP:0011611
  • Multiple muscular ventricular septal defectsHP:0011625
  • NephritisHP:0000123
  • Patent ductus arteriosusHP:0001643
  • Renal dysplasiaHP:0000110
  • Renal insufficiencyHP:0000083
  • Sensorineural hearing impairmentHP:0000407
  • Tricuspid atresiaHP:0011662
  • Tricuspid stenosisHP:0010446
  • Vesicoureteral refluxHP:0000076

Very rare (<4-1%)(4)

  • Anal atresiaHP:0002023
  • Intellectual disabilityHP:0001249
  • Jejunal atresiaHP:0005235
  • Short statureHP:0004322