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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01843 | Cerebrocostomandibular syndrome | ... However, general development progresses well once the initial respiratory problems are survived. Specific mutations in SNRPB, which encodes components of the major spliceosome, have been found to cause CCMS. | Congenital malformation | SNRPB [HSA:6628] [KO:K11086] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |