Synonyms: DNA ligase IV deficiency | Ligase 4 syndrome
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).
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
Newly diagnosed with
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