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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02547 | BRENS syndrome | ... skeletal (BRENS) syndrome is a severe ciliopathy disorder that segregates in an autosomal recessive manner. BRENS syndrome is caused by homozygous mutations in TTC26 gene, that encodes a ciliary protein. | Congenital malformation | TTC26 [HSA:79989] [KO:K19685] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |