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Leukocyte adhesion deficiency type II

ORPHA:99843 · Clinical subtype · Subtype of disorder

HPO 表現型（共 58 項）

Very frequent (99-80%)(8)

  • Abnormal circulating isohemagglutinin concentrationHP:0410292
  • AnemiaHP:0001903
  • Coarse facial featuresHP:0000280
  • Failure to thriveHP:0001508
  • Increased total leukocyte countHP:0001974
  • Increased total neutrophil countHP:0011897
  • Recurrent infectionsHP:0002719
  • Short statureHP:0004322

Frequent (79-30%)(9)

  • Autistic behaviorHP:0000729
  • Cerebral atrophyHP:0002059
  • Intrauterine growth retardationHP:0001511
  • Microcytic anemiaHP:0001935
  • Recurrent feverHP:0001954
  • SeizureHP:0001250
  • Severe intellectual disabilityHP:0010864
  • Sleep disturbanceHP:0002360
  • Small for gestational ageHP:0001518

Occasional (29-5%)(41)

  • AtaxiaHP:0001251
  • Broad eyebrowHP:0011229
  • Broad palmHP:0001169
  • Chronic diarrheaHP:0002028
  • Chronic lymphocytic meningitisHP:0007041
  • Conductive hearing impairmentHP:0000405
  • Deep philtrumHP:0002002
  • Depressed nasal bridgeHP:0005280
  • Depressed nasal ridgeHP:0000457
  • EsodeviationHP:0020045
  • Generalized hypotoniaHP:0001290
  • Gingival overgrowthHP:0000212
  • HepatomegalyHP:0002240
  • HyperreflexiaHP:0001347
  • HypertelorismHP:0000316
  • Hypoplasia of the frontal lobesHP:0007333
  • Impaired tandem gaitHP:0031629
  • KeratitisHP:0000491
  • Limb undergrowthHP:0009826
  • Long eyelashesHP:0000527
  • Long upper lipHP:0011341
  • Low anterior hairlineHP:0000294
  • Lower limb hypertoniaHP:0006895
  • Mandibular prognathiaHP:0000303
  • MicrocephalyHP:0000252
  • MicrotiaHP:0008551
  • Narrow palateHP:0000189
  • Overlapping toeHP:0001845
  • Palpebral edemaHP:0100540
  • Premature loss of teethHP:0006480
  • Protruding tongueHP:0010808
  • Recurrent gastroenteritisHP:0031123
  • Recurrent otitis mediaHP:0000403
  • Recurrent pneumoniaHP:0006532
  • Recurrent urinary tract infectionsHP:0000010
  • ScarringHP:0100699
  • Severe periodontitisHP:0000166
  • Skin vesicleHP:0200037
  • Small earlobeHP:0000385
  • Umbilical herniaHP:0001537
  • Wide nasal bridgeHP:0000431