← 返回搜尋

LIG4 syndrome

ORPHA:99812 · Disease · Disorder

HPO 表現型（共 35 項）

Very frequent (99-80%)(6)

  • Abnormality of chromosome stabilityHP:0003220
  • Bird-like faciesHP:0000320
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • ImmunodeficiencyHP:0002721
  • MicrocephalyHP:0000252

Frequent (79-30%)(18)

  • Abnormal bone marrow cell morphologyHP:0005561
  • Acute leukemiaHP:0002488
  • Biparietal narrowingHP:0004422
  • BrachycephalyHP:0000248
  • Convex nasal ridgeHP:0000444
  • Cutaneous photosensitivityHP:0000992
  • EpicanthusHP:0000286
  • ErythemaHP:0010783
  • Intellectual disabilityHP:0001249
  • Low anterior hairlineHP:0000294
  • LymphomaHP:0002665
  • MicrognathiaHP:0000347
  • PancytopeniaHP:0001876
  • Severe combined immunodeficiencyHP:0004430
  • TelecanthusHP:0000506
  • Thin vermilion borderHP:0000233
  • Upslanted palpebral fissureHP:0000582
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(11)

  • Abnormality of the skeletal systemHP:0000924
  • Clinodactyly of the 5th fingerHP:0004209
  • CryptorchidismHP:0000028
  • HepatomegalyHP:0002240
  • Hypoplasia of penisHP:0008736
  • HypothyroidismHP:0000821
  • Increased total leukocyte countHP:0001974
  • LymphadenopathyHP:0002716
  • MalabsorptionHP:0002024
  • Telangiectasia of the skinHP:0100585
  • Type II diabetes mellitusHP:0005978