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Entry | Name | Description | Category | Pathway | Gene |
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H02058 | Kohlschutter-Tonz syndrome | ... epilepsy, psychomotor regression, and amelogenesis imperfecta. It has been reported that KTS is caused by mutations in ROGDI, that plays an important role in neuronal development as well as amelogenesis. | Nervous system disease | ROGDI [HSA:79641] [KO:K24628] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |