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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02271 | Cerebellofaciodental syndrome | ... dysmorphic features, short stature, microcephaly, and dental anomalies. Biallelic missense alterations of BRF1 have been revealed in CFDS families. It is suggested that BRF1 mutations alter RNA polymerase III-dependent ... | Congenital malformation | BRF1 [HSA:2972] [KO:K15196] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |