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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00709 |
Birk Barel mental retardation syndrome (BBMRS) Birk-Barel syndrome (BIBAS) |
... syndrome (BBMRS) is characterized by mental retardation, hypotonia, hyperactivity, and facial dysmorphism. The potassium channel KCNK9 gene, which is responsible for the disease, was found to be imprinted. | Congenital malformation | KCNK9 [HSA:51305] [KO:K04919] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |