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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00617 | Desmosterolosis | ... developmental delay, brain malformations, skeletal anomalies, and facial deformities are caused by impaired cholesterol synthesis due to mutations in the enzyme 24-dehydrocholesterol reductase (DHCR24). | Inherited metabolic disorder | DHCR24 [HSA:1718] [KO:K09828] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |