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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01035 | Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia | ... retrognathia, mental retardation, and agenesis of the corpus callosum. This syndrome is caused by mutations in 5-prime region of IGBP1 gene, a regulatory subunit of the major cellular phosphatase PP2A. | Congenital malformation | IGBP1 (5-prime region) [HSA:3476] [KO:K17606] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |