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Ulnar-mammary syndrome

ORPHA:3138 · Malformation syndrome · Disorder

HPO 表現型（共 36 項）

Very frequent (99-80%)(5)

  • Abnormal finger morphologyHP:0001167
  • Abnormal fingernail morphologyHP:0001231
  • Abnormality of temperature regulationHP:0004370
  • Absent axillary hairHP:0002221
  • Aplasia/Hypoplasia of the ulnaHP:0006495

Frequent (79-30%)(9)

  • Abnormality of the uterusHP:0000130
  • Abnormality of the wristHP:0003019
  • CryptorchidismHP:0000028
  • Decreased fertilityHP:0000144
  • Delayed pubertyHP:0000823
  • Hypoplasia of penisHP:0008736
  • Hypoplastic nipplesHP:0002557
  • ObesityHP:0001513
  • Short statureHP:0004322

Occasional (29-5%)(22)

  • Abnormal clavicle morphologyHP:0000889
  • Abnormal humerus morphologyHP:0031095
  • Abnormal metacarpal morphologyHP:0005916
  • Abnormal morphology of the radiusHP:0002818
  • Absent handHP:0004050
  • Anal atresiaHP:0002023
  • Aplasia of the pectoralis major muscleHP:0009751
  • ArrhythmiaHP:0011675
  • Breast aplasiaHP:0100783
  • Camptodactyly of fingerHP:0100490
  • Ectopic anusHP:0004397
  • Hernia of the abdominal wallHP:0004299
  • HypodontiaHP:0000668
  • Hypoplastic toenailsHP:0001800
  • LaryngomalaciaHP:0001601
  • Pectus carinatumHP:0000768
  • Postaxial hand polydactylyHP:0001162
  • Pyloric stenosisHP:0002021
  • Renal hypoplasiaHP:0000089
  • Short distal phalanx of fingerHP:0009882
  • Sprengel anomalyHP:0000912
  • Ventricular septal defectHP:0001629