DNA-ligase IV deficiency (Q88881)
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LIG4 syndrome is a hereditary disorder associated with impaired DNA double strand break repair mechanisms and characterised by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_969767034 |
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| English | DNA-ligase IV deficiency |
LIG4 syndrome is a hereditary disorder associated with impaired DNA double strand break repair mechanisms and characterised by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID). |
