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GTR Home > Conditions/Phenotypes > DNA ligase IV deficiency

DNA ligase IV deficiency

Synonyms
Lig4 syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

LIG4 syndrome is an autosomal recessive severe combined immunodeficiency with features of radiosensitivity, chromosomal instability, pancytopenia, and developmental and growth delay. Leukemia and dysmorphic facial features have been reported in some patients (summary by van der Burg et al., 2006). [from OMIM]

Available tests

55 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (55 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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