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RIDDLE syndrome

ORPHA:420741 · Malformation syndrome · Disorder

HPO 表現型（共 43 項）

Very frequent (99-80%)(6)

  • Chromosomal breakage induced by ionizing radiationHP:0010997
  • Decreased circulating IgA concentrationHP:0002720
  • Decreased circulating IgG concentrationHP:0004315
  • Elevated circulating alpha-fetoprotein concentrationHP:0006254
  • ImmunodeficiencyHP:0002721
  • Short statureHP:0004322

Frequent (79-30%)(8)

  • Abnormal facial shapeHP:0001999
  • BronchitisHP:0012387
  • Chronic sinusitisHP:0011109
  • PneumoniaHP:0002090
  • Recurrent feverHP:0001954
  • Recurrent pneumoniaHP:0006532
  • Recurrent sinusitisHP:0011108
  • Specific learning disabilityHP:0001328

Occasional (29-5%)(29)

  • Abdominal painHP:0002027
  • Abnormal cerebral white matter morphologyHP:0002500
  • Abnormal pulmonary interstitial morphologyHP:0006530
  • ArthritisHP:0001369
  • AtaxiaHP:0001251
  • ClumsinessHP:0002312
  • Conjunctival telangiectasiaHP:0000524
  • Decreased circulating IgM concentrationHP:0002850
  • Demyelinating peripheral neuropathyHP:0007108
  • DiarrheaHP:0002014
  • Emotional labilityHP:0000712
  • Enuresis nocturnaHP:0010677
  • ErythemaHP:0010783
  • Gait disturbanceHP:0001288
  • Generalized lymphadenopathyHP:0008940
  • Global developmental delayHP:0001263
  • HeadacheHP:0002315
  • Intraventricular hemorrhageHP:0030746
  • MicrocephalyHP:0000252
  • Neonatal asphyxiaHP:0012768
  • Otitis mediaHP:0000388
  • Poor hand-eye coordinationHP:0007057
  • Pulmonary fibrosisHP:0002206
  • Recurrent viral infectionsHP:0004429
  • Respiratory failureHP:0002878
  • Restrictive ventilatory defectHP:0002091
  • Scaling skinHP:0040189
  • TelangiectasiaHP:0001009
  • Weight lossHP:0001824