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Ring chromosome 21 syndrome

ORPHA:1445 · Malformation syndrome · Disorder

HPO 表現型（共 30 項）

Very frequent (99-80%)(1)

  • Abnormal facial shapeHP:0001999

Frequent (79-30%)(7)

  • AmenorrheaHP:0000141
  • EEG abnormalityHP:0002353
  • Global developmental delayHP:0001263
  • InfertilityHP:0000789
  • Intellectual disabilityHP:0001249
  • MicrocephalyHP:0000252
  • SeizureHP:0001250

Occasional (29-5%)(22)

  • Abnormal heart morphologyHP:0001627
  • Abnormal thorax morphologyHP:0000765
  • AzoospermiaHP:0000027
  • Bilateral tonic-clonic seizure with generalized onsetHP:0025190
  • ClinodactylyHP:0030084
  • Cutaneous photosensitivityHP:0000992
  • Decreased circulating immunoglobulin concentrationHP:0004313
  • Delayed speech and language developmentHP:0000750
  • Diabetes insipidusHP:0000873
  • Fused thoracic vertebraeHP:0030039
  • Gait disturbanceHP:0001288
  • Generalized myoclonic seizureHP:0002123
  • HoloprosencephalyHP:0001360
  • Multiple cafe-au-lait spotsHP:0007565
  • Narrow palmHP:0004283
  • ScoliosisHP:0002650
  • Short statureHP:0004322
  • Simple febrile seizureHP:0011171
  • Small handHP:0200055
  • SpasticityHP:0001257
  • SyndactylyHP:0001159
  • Thoracic hemivertebraeHP:0008467