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Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome

ORPHA:71289 · Malformation syndrome · Disorder

HPO 表現型（共 6 項）

Very frequent (99-80%)(2)

  • Clinodactyly of the 5th fingerHP:0004209
  • Radioulnar synostosisHP:0002974

Frequent (79-30%)(1)

  • Amegakaryocytic thrombocytopeniaHP:0004859

Occasional (29-5%)(3)

  • Finger syndactylyHP:0006101
  • Hip dysplasiaHP:0001385
  • Sensorineural hearing impairmentHP:0000407