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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02285 | Methylmalonate semialdehyde dehydrogenase deficiency | ... Dysmorphic facial features and congenital brain dysgenesis with intracerebral calcifications have also been described. Mutations in the ALDH6A1 gene coding for MMSDH are associated with this disease. | Inherited metabolic disorder | ALDH6A1 [HSA:4329] [KO:K00140] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |