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Ring chromosome 9 syndrome

ORPHA:96173 · Malformation syndrome · Disorder

HPO 表現型（共 15 項）

Frequent (79-30%)(9)

  • Delayed speech and language developmentHP:0000750
  • Failure to thriveHP:0001508
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • Intellectual disabilityHP:0001249
  • Long philtrumHP:0000343
  • MicrocephalyHP:0000252
  • Thick eyebrowHP:0000574
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(6)

  • Depigmentation/hyperpigmentation of skinHP:0007483
  • Feeding difficulties in infancyHP:0008872
  • HypotoniaHP:0001252
  • Protruding tongueHP:0010808
  • ScoliosisHP:0002650
  • SeizureHP:0001250