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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02578 | Short stature, microcephaly, and endocrine dysfunction | ... gonadal failure, metabolic syndrome, and possibly tumor predisposition. It has been reported that mutations in XRCC4 cause this disease. XRCC4 plays a critical role in non-homologous end-joining DNA repair. | Congenital malformation | XRCC4 [HSA:7518] [KO:K10886] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |