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Symptoms of IGD

Common symptoms of IGD are intellectual disability and developmental delay, which are often accompanied by epilepsy. If patients have these symptoms and at least one of the following, flow cytometric analysis of the blood is recommended.

  • Early-onset epileptic encephalopathy (Ohtahara syndrome, West syndrome, etc.)
  • Characteristic facial features (hypertelorism, broad nasal bridge, tented upper lip, cleft palate)
  • Abnormalities in fingers and toes (brachytelephalangy, hypoplastic nails)
  • Multiple organ anomalies (an aganglionic megacolon, kidney or anorectal anomalies)
  • Hearing loss or visual impairment
  • Skin abnormalities (ichthyosis etc.)
  • Hyperphosphatasia
  • Hypophosphatasia with bone dysplasia