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Temtamy syndrome

ORPHA:1777 · Malformation syndrome · Disorder

HPO 表現型（共 25 項）

Very frequent (99-80%)(8)

  • Aplasia/Hypoplasia of the corpus callosumHP:0007370
  • BrachydactylyHP:0001156
  • Chorioretinal colobomaHP:0000567
  • Global developmental delayHP:0001263
  • HypertelorismHP:0000316
  • Intellectual disabilityHP:0001249
  • Iris colobomaHP:0000612
  • Short toeHP:0001831

Frequent (79-30%)(10)

  • Aortic aneurysmHP:0004942
  • Coarse facial featuresHP:0000280
  • Convex nasal ridgeHP:0000444
  • DolichocephalyHP:0000268
  • Genu varumHP:0002970
  • Long faceHP:0000276
  • Low-set earsHP:0000369
  • MacrocephalyHP:0000256
  • MicrognathiaHP:0000347
  • Pes planusHP:0001763

Occasional (29-5%)(7)

  • Abnormal palate morphologyHP:0000174
  • Clinodactyly of the 5th fingerHP:0004209
  • Facial asymmetryHP:0000324
  • Joint hypermobilityHP:0001382
  • MicrophthalmiaHP:0000568
  • TelecanthusHP:0000506
  • Thick lower lip vermilionHP:0000179