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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00924 |
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation NHEJ1 syndrome |
... lymphocytopenia, growth retardation, microcephaly, and increased cellular radiosensitivity. Mutations in human NHEJ1 can lead to lymphocytopenia due to its role in V(D)J recombination in the immune system. This disease ... | Primary immunodeficiency | NHEJ1 [HSA:79840] [KO:K10980] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |