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Ring chromosome 18 syndrome

ORPHA:1442 · Malformation syndrome · Disorder

HPO 表現型（共 14 項）

Frequent (79-30%)(5)

  • Cognitive impairmentHP:0100543
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249
  • MicrocephalyHP:0000252
  • Short statureHP:0004322

Occasional (29-5%)(9)

  • Abnormal internal genitaliaHP:0000812
  • Cleft lipHP:0410030
  • Delayed myelinationHP:0012448
  • HypothyroidismHP:0000821
  • HypotoniaHP:0001252
  • Intrauterine growth retardationHP:0001511
  • Language impairmentHP:0002463
  • SeizureHP:0001250
  • Talipes equinovarusHP:0001762