DNA ligase IV deficiency
MONDO:0011686LIG4 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
17 clinical trials for this condition and its sub-types.
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