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Dahlberg-Borer-Newcomer syndrome

ORPHA:1563 · Malformation syndrome · Disorder

HPO 表現型（共 17 項）

Very frequent (99-80%)(15)

  • AnonychiaHP:0001798
  • BrachydactylyHP:0001156
  • Generalized hirsutismHP:0002230
  • HypocalcemiaHP:0002901
  • HypohidrosisHP:0000966
  • HypoparathyroidismHP:0000829
  • HypothyroidismHP:0000821
  • LymphedemaHP:0001004
  • Mitral valve prolapseHP:0001634
  • NephropathyHP:0000112
  • Short distal phalanx of fingerHP:0009882
  • Short statureHP:0004322
  • TelecanthusHP:0000506
  • Thickened skinHP:0001072
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(1)

  • CataractHP:0000518

Occasional (29-5%)(1)

  • Renal insufficiencyHP:0000083