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Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome

ORPHA:1110 · Malformation syndrome · Disorder

HPO 表現型（共 23 項）

Very frequent (99-80%)(14)

  • Abnormal aortic arch morphologyHP:0012303
  • Broad foreheadHP:0000337
  • Carious teethHP:0000670
  • Convex nasal ridgeHP:0000444
  • Downslanted palpebral fissuresHP:0000494
  • Downturned corners of mouthHP:0002714
  • Facial asymmetryHP:0000324
  • Intellectual disabilityHP:0001249
  • MacrotiaHP:0000400
  • Narrow mouthHP:0000160
  • Overriding aortaHP:0002623
  • Posteriorly rotated earsHP:0000358
  • Prominent nasal bridgeHP:0000426
  • Triangular faceHP:0000325

Frequent (79-30%)(2)

  • Arteriovenous malformationHP:0100026
  • MicrocephalyHP:0000252

Occasional (29-5%)(7)

  • Abnormal hip bone morphologyHP:0003272
  • Atypical behaviorHP:0000708
  • Genu varumHP:0002970
  • Hypoplasia of the zygomatic boneHP:0010669
  • HypotoniaHP:0001252
  • Intrauterine growth retardationHP:0001511
  • Mandibular prognathiaHP:0000303