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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