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Pseudopseudohypoparathyroidism

ORPHA:79445 · Disease · Disorder

HPO 表現型（共 18 項）

Frequent (79-30%)(8)

  • BrachydactylyHP:0001156
  • Ectopic ossificationHP:0011986
  • Round faceHP:0000311
  • Short 4th metacarpalHP:0010044
  • Short 5th fingerHP:0009237
  • Short 5th metacarpalHP:0010047
  • Short metatarsalHP:0010743
  • Short statureHP:0004322

Occasional (29-5%)(7)

  • Delayed speech and language developmentHP:0000750
  • Intellectual disabilityHP:0001249
  • Intrauterine growth retardationHP:0001511
  • ObesityHP:0001513
  • Osteoma cutisHP:0025027
  • Short distal phalanx of the 3rd fingerHP:0004180
  • Short distal phalanx of the thumbHP:0009650

Excluded (0%)(3)

  • Elevated circulating parathyroid hormone levelHP:0003165
  • HyperphosphatemiaHP:0002905
  • HypocalcemiaHP:0002901