GTR Home > Conditions/Phenotypes > Lig4 syndrome


A very rare genetic disorder caused by mutation in the LIG4 gene. It is characterized by unusual facial features, microcephaly, growth and developmental delay, severe immunodeficiency, and skin abnormalities. [from NCI]

Available tests

30 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Genes See tests for all associated and related genes

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Support Center