LIG4 syndrome

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LIG4 syndrome

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.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version March 2024

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LIG4 syndrome?

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Clinical Trials

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