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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02439 | Short stature, developmental delay, congenital heart defect | ... developmental delay, congenital heart defect (SDDHD) is an autosomal recessive syndrome caused by mutations in TKT, that encodes transketolase. Transketolase is a thiamine-dependent enzyme in the pentose phosphate ... | Inherited metabolic disorder | TKT [HSA:7086] [KO:K00615] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |