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Xeroderma pigmentosum-Cockayne syndrome complex

ORPHA:220295 · Disease · Disorder

HPO 表現型（共 29 項）

Very frequent (99-80%)(21)

  • Abnormality of amino acid metabolismHP:0004337
  • ArteriosclerosisHP:0002634
  • AtaxiaHP:0001251
  • CachexiaHP:0004326
  • Cutaneous photosensitivityHP:0000992
  • Dermal atrophyHP:0004334
  • Dry skinHP:0000958
  • Hearing impairmentHP:0000365
  • HydrocephalusHP:0000238
  • Intellectual disabilityHP:0001249
  • MicrocephalyHP:0000252
  • Numerous pigmented frecklesHP:0007587
  • NystagmusHP:0000639
  • Optic atrophyHP:0000648
  • PoikilodermaHP:0001029
  • Prematurely aged appearanceHP:0007495
  • RetinopathyHP:0000488
  • Short statureHP:0004322
  • Skin rashHP:0000988
  • SpasticityHP:0001257
  • UrticariaHP:0001025

Frequent (79-30%)(8)

  • Basal cell carcinomaHP:0002671
  • ConfusionHP:0001289
  • Demyelinating peripheral neuropathyHP:0007108
  • DiplopiaHP:0000651
  • DysarthriaHP:0001260
  • Global developmental delayHP:0001263
  • MelanomaHP:0002861
  • Squamous cell carcinoma of the skinHP:0006739