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LIG4 syndrome

Disease definition

LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).

ORPHA:99812

  • Synonym(s):
    • DNA ligase IV deficiency
    • Ligase 4 syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D81.1
  • OMIM: 606593
  • UMLS: C1847827
  • MeSH: -
  • GARD: -
  • MedDRA: -

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