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Nijmegen breakage syndrome

ORPHA:647 · Malformation syndrome · Disorder

HPO 表現型（共 49 項）

Very frequent (99-80%)(31)

  • Abnormal hair morphologyHP:0001595
  • Abnormal hair quantityHP:0011362
  • Abnormality of chromosome stabilityHP:0003220
  • Abnormality of the faceHP:0000271
  • Anal atresiaHP:0002023
  • Anal stenosisHP:0002025
  • Anorectal anomalyHP:0012732
  • Attention deficit hyperactivity disorderHP:0007018
  • Autoimmune hemolytic anemiaHP:0001890
  • CachexiaHP:0004326
  • Chronic diarrheaHP:0002028
  • Convex nasal ridgeHP:0000444
  • Deep philtrumHP:0002002
  • Depressed nasal bridgeHP:0005280
  • Hearing abnormalityHP:0000364
  • Hemolytic anemiaHP:0001878
  • Low anterior hairlineHP:0000294
  • MacrotiaHP:0000400
  • Mental deteriorationHP:0001268
  • MicrocephalyHP:0000252
  • Prominent nasal bridgeHP:0000426
  • Prominent noseHP:0000448
  • Recurrent pneumoniaHP:0006532
  • Recurrent respiratory infectionsHP:0002205
  • Recurrent sinopulmonary infectionsHP:0005425
  • RetrognathiaHP:0000278
  • Short neckHP:0000470
  • Short statureHP:0004322
  • Sloping foreheadHP:0000340
  • ThrombocytopeniaHP:0001873
  • Upslanted palpebral fissureHP:0000582

Frequent (79-30%)(2)

  • NeoplasmHP:0002664
  • PollakisuriaHP:0100515

Occasional (29-5%)(16)

  • Abnormal eyelid morphologyHP:0000492
  • Abnormality of neuronal migrationHP:0002269
  • Abnormality of the musculatureHP:0003011
  • Acute leukemiaHP:0002488
  • B-cell lymphomaHP:0012191
  • Cleft palateHP:0000175
  • Cutaneous photosensitivityHP:0000992
  • FrecklingHP:0001480
  • GliomaHP:0009733
  • LymphomaHP:0002665
  • Muscle weaknessHP:0001324
  • Non-midline cleft of the upper lipHP:0100335
  • Respiratory failureHP:0002878
  • RhabdomyosarcomaHP:0002859
  • Skeletal muscle atrophyHP:0003202
  • T-cell lymphomaHP:0012190