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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02549 | Cerebellar ataxia, brain abnormalities, and cardiac conduction defects | ... abnormalities, and cardiac conduction defects (CABAC) is a rare autosomal recessive disorder. Patients with biallelic variants in EXOSC5 have been reported. EXOSC5 encodes a structural subunit of the RNA exosome. | Congenital malformation | EXOSC5 [HSA:56915] [KO:K12590] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |