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Short stature-wormian bones-dextrocardia syndrome

ORPHA:2863 · Malformation syndrome · Disorder

HPO 表現型(共 25 項)

Very frequent (99-80%)(25)

  • Abnormal dermatoglyphicsHP:0007477
  • Abnormality of the philtrumHP:0000288
  • Anal atresiaHP:0002023
  • Anterior hypopituitarismHP:0000830
  • BrachydactylyHP:0001156
  • Broad alveolar ridgesHP:0000187
  • Camptodactyly of fingerHP:0100490
  • Cognitive impairmentHP:0100543
  • CryptorchidismHP:0000028
  • Delayed eruption of teethHP:0000684
  • Depressed nasal tipHP:0000437
  • DextrocardiaHP:0001651
  • Downslanted palpebral fissuresHP:0000494
  • High palateHP:0000218
  • Long eyelashesHP:0000527
  • Low-set earsHP:0000369
  • MicrognathiaHP:0000347
  • Midshaft hypospadiasHP:0012854
  • Patent ductus arteriosusHP:0001643
  • Renal hypoplasia/aplasiaHP:0008678
  • Short statureHP:0004322
  • SpasticityHP:0001257
  • Tooth agenesisHP:0009804
  • Wide nasal bridgeHP:0000431
  • Wormian bonesHP:0002645