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Sorsby syndrome

ORPHA:1471 · Malformation syndrome · Disorder

HPO 表現型（共 9 項）

Very frequent (99-80%)(3)

  • Chorioretinal colobomaHP:0000567
  • Short distal phalanx of fingerHP:0009882
  • Type B brachydactylyHP:0005831

Frequent (79-30%)(4)

  • Absent fingernailHP:0001817
  • Broad thumbHP:0011304
  • Camptodactyly of fingerHP:0100490
  • Fingernail dysplasiaHP:0100798

Occasional (29-5%)(2)

  • Renal agenesisHP:0000104
  • Short statureHP:0004322