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PCNA-related progressive neurodegenerative photosensitivity syndrome

ORPHA:438134 · Disease · Disorder

HPO 表現型（共 16 項）

Very frequent (99-80%)(7)

  • Cutaneous photosensitivityHP:0000992
  • Gait ataxiaHP:0002066
  • Global developmental delayHP:0001263
  • Hearing impairmentHP:0000365
  • NeurodegenerationHP:0002180
  • PhotophobiaHP:0000613
  • Telangiectasia of the skinHP:0100585

Frequent (79-30%)(4)

  • Absent pubertal growth spurtHP:0031087
  • Mild intellectual disabilityHP:0001256
  • Retinal telangiectasiaHP:0007763
  • Short statureHP:0004322

Occasional (29-5%)(5)

  • Cerebellar atrophyHP:0001272
  • Congenital diaphragmatic herniaHP:0000776
  • MicrocephalyHP:0000252
  • NeoplasmHP:0002664
  • Severe intellectual disabilityHP:0010864