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Ring chromosome 3 syndrome

ORPHA:96172 · Malformation syndrome · Disorder

HPO 表現型（共 21 項）

Very frequent (99-80%)(2)

  • MicrocephalyHP:0000252
  • Postnatal growth retardationHP:0008897

Frequent (79-30%)(12)

  • Abnormal pinna morphologyHP:0000377
  • BrachydactylyHP:0001156
  • ClinodactylyHP:0030084
  • Downturned corners of mouthHP:0002714
  • EpicanthusHP:0000286
  • Intellectual disabilityHP:0001249
  • Intrauterine growth retardationHP:0001511
  • Long philtrumHP:0000343
  • MicroretrognathiaHP:0000308
  • Short statureHP:0004322
  • Triangular faceHP:0000325
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(7)

  • Failure to thrive in infancyHP:0001531
  • Feeding difficulties in infancyHP:0008872
  • High palateHP:0000218
  • HypospadiasHP:0000047
  • HypotoniaHP:0001252
  • PtosisHP:0000508
  • Thick eyebrowHP:0000574