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Bannayan-Riley-Ruvalcaba syndrome

ORPHA:109 · Clinical subtype · Subtype of disorder

HPO 表現型（共 55 項）

Very frequent (99-80%)(12)

  • Abnormal large intestine morphologyHP:0002250
  • Arteriovenous malformationHP:0100026
  • Capillary hemangiomaHP:0005306
  • Hamartomatous polyposisHP:0004390
  • Intestinal polyposisHP:0200008
  • Irregular hyperpigmentationHP:0007400
  • LipomaHP:0012032
  • MacrocephalyHP:0000256
  • Neoplasm of the breastHP:0100013
  • NevusHP:0003764
  • Short statureHP:0004322
  • Visceral angiomatosisHP:0100761

Frequent (79-30%)(4)

  • Pectus excavatumHP:0000767
  • ScoliosisHP:0002650
  • Subcutaneous hemorrhageHP:0001933
  • Subcutaneous noduleHP:0001482

Occasional (29-5%)(39)

  • Abdominal wall muscle weaknessHP:0009023
  • Abnormal optic nerve morphologyHP:0000587
  • Abnormal speech patternHP:0002167
  • Angina pectorisHP:0001681
  • Anteverted naresHP:0000463
  • Aortic aneurysmHP:0004942
  • Broad thumbHP:0011304
  • CachexiaHP:0004326
  • Cutis marmorataHP:0000965
  • Delayed gross motor developmentHP:0002194
  • Delayed skeletal maturationHP:0002750
  • DolichocephalyHP:0000268
  • Frontal bossingHP:0002007
  • Hashimoto thyroiditisHP:0000872
  • HypoglycemiaHP:0001943
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Intracranial hemorrhageHP:0002170
  • Joint hypermobilityHP:0001382
  • Long philtrumHP:0000343
  • LymphedemaHP:0001004
  • LymphomaHP:0002665
  • MacrotiaHP:0000400
  • MeningiomaHP:0002858
  • MicrognathiaHP:0000347
  • Multiple cafe-au-lait spotsHP:0007565
  • Muscle weaknessHP:0001324
  • MyopathyHP:0003198
  • Narrow palateHP:0000189
  • NeoplasmHP:0002664
  • Neoplasm of the adrenal cortexHP:0100641
  • SeizureHP:0001250
  • Short noseHP:0003196
  • Skeletal muscle atrophyHP:0003202
  • Tall statureHP:0000098
  • TelangiectasiaHP:0001009
  • Thyroid carcinomaHP:0002890
  • Uterine neoplasmHP:0010784
  • Wide noseHP:0000445