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Ring chromosome 11 syndrome

ORPHA:96175 · Malformation syndrome · Disorder

HPO 表現型（共 21 項）

Frequent (79-30%)(7)

  • Abnormality of the faceHP:0000271
  • Cafe-au-lait spotHP:0000957
  • Decreased body weightHP:0004325
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249
  • MicrocephalyHP:0000252
  • Short statureHP:0004322

Occasional (29-5%)(14)

  • Abnormal heart morphologyHP:0001627
  • ClinodactylyHP:0030084
  • Clitoral hypertrophyHP:0008665
  • CryptorchidismHP:0000028
  • Delayed speech and language developmentHP:0000750
  • Growth delayHP:0001510
  • HirsutismHP:0001007
  • HypospadiasHP:0000047
  • HypothyroidismHP:0000821
  • Intrauterine growth retardationHP:0001511
  • NephroblastomaHP:0002667
  • ObesityHP:0001513
  • Precocious pubertyHP:0000826
  • Spotty hypopigmentationHP:0005590