(Q56014612)

English

intellectual disability, autosomal recessive 53

human disease

  • glycosylphosphatidylinositol biosynthesis defect 13
  • Congenital disorder of glycosylation due to PIGG deficiency
  • PIGG-CDG
  • GPIBD13
  • early-onset epilepsy-intellectual disability-brain anomalies syndrome
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