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LIG4 syndrome

Genetics: - associated with defects in LIG4 Clinical manifestations: - immunodeficiency - developmental & growth delay - unusual facial features - microcephaly, growth - various skin abnormalities Laboratory: - pancytopenia

General

genetic syndrome (multisystem disorder)

Database Correlations

OMIM 606593

References

  1. OMIM :accession 606593
  2. UniProt :accession P49917