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DNA ligase IV deficiency

MONDO:0011686

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).

Also known as: DNA ligase IV deficiency, LIG4 syndrome, ligase 4 syndrome

3 clinical trials for this condition and its sub-types, 1 tagged with DNA ligase IV deficiency itself.

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