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Axenfeld-Rieger syndrome

ORPHA:782 · Malformation syndrome · Disorder

HPO 表現型（共 21 項）

Very frequent (99-80%)(3)

  • Abnormal anterior chamber morphologyHP:0000593
  • Aplasia/Hypoplasia of the irisHP:0008053
  • Posterior embryotoxonHP:0000627

Frequent (79-30%)(5)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Everted lower lip vermilionHP:0000232
  • GlaucomaHP:0000501
  • Hearing impairmentHP:0000365
  • Midface retrusionHP:0011800

Occasional (29-5%)(13)

  • Abnormality of the hypothalamus-pituitary axisHP:0000864
  • Anal stenosisHP:0002025
  • Depressed nasal bridgeHP:0005280
  • Growth delayHP:0001510
  • HypertelorismHP:0000316
  • HypodontiaHP:0000668
  • Hypoplasia of the maxillaHP:0000327
  • HypospadiasHP:0000047
  • MicrodontiaHP:0000691
  • Prominent foreheadHP:0011220
  • Redundant skinHP:0001582
  • TelecanthusHP:0000506
  • Wide nasal bridgeHP:0000431