← 返回搜尋

Griscelli syndrome

ORPHA:381 · Disease · Disorder

HPO 表現型（共 36 項）

Very frequent (99-80%)(4)

  • Hypopigmented skin patchesHP:0001053
  • Premature graying of hairHP:0002216
  • Silver-gray hairHP:0002218
  • White hairHP:0011364

Frequent (79-30%)(8)

  • Abnormal circulating lipid concentrationHP:0003119
  • Abnormality of neutrophilsHP:0001874
  • Decreased circulating immunoglobulin concentrationHP:0004313
  • Decreased total leukocyte countHP:0001882
  • Diminished deep tendon reflexHP:0001315
  • ImmunodeficiencyHP:0002721
  • LymphadenopathyHP:0002716
  • ThrombocytopeniaHP:0001873

Occasional (29-5%)(24)

  • Abnormal eyebrow morphologyHP:0000534
  • Abnormal eyelash morphologyHP:0000499
  • Abnormality of movementHP:0100022
  • AscitesHP:0001541
  • AtaxiaHP:0001251
  • Bone marrow hypocellularityHP:0005528
  • Cranial nerve paralysisHP:0006824
  • EncephaloceleHP:0002084
  • FeverHP:0001945
  • Global developmental delayHP:0001263
  • HepatitisHP:0012115
  • HepatomegalyHP:0002240
  • HydrocephalusHP:0000238
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Iris hypopigmentationHP:0007730
  • JaundiceHP:0000952
  • NystagmusHP:0000639
  • Pedal edemaHP:0010741
  • Pyloric stenosisHP:0002021
  • SeizureHP:0001250
  • Short statureHP:0004322
  • SpasticityHP:0001257
  • SplenomegalyHP:0001744