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ICF syndrome

ORPHA:2268 · Malformation syndrome · Disorder

HPO 表現型（共 23 項）

Very frequent (99-80%)(6)

  • Abnormality of chromosome stabilityHP:0003220
  • Decreased circulating immunoglobulin concentrationHP:0004313
  • ImmunodeficiencyHP:0002721
  • MicrognathiaHP:0000347
  • Recurrent respiratory infectionsHP:0002205
  • Short statureHP:0004322

Frequent (79-30%)(10)

  • Abnormality of neutrophilsHP:0001874
  • AnemiaHP:0001903
  • Cellular immunodeficiencyHP:0005374
  • Communicating hydrocephalusHP:0001334
  • Decreased total lymphocyte countHP:0001888
  • Depressed nasal bridgeHP:0005280
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249
  • MacrocephalyHP:0000256
  • MalabsorptionHP:0002024

Occasional (29-5%)(7)

  • EpicanthusHP:0000286
  • Flat faceHP:0012368
  • HypertelorismHP:0000316
  • Low-set earsHP:0000369
  • MacroglossiaHP:0000158
  • Protruding tongueHP:0010808
  • Umbilical herniaHP:0001537