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Entry | Name | Description | Category | Pathway | Gene |
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H02653 | Faundes-Banka syndrome | ... variable combinations of developmental delay, microcephaly, micrognathia and dysmorphism. Mutations in EIF5A cause this disease. EIF5A encodes the eukaryotic translation factor 5A (eIF5A) that plays a pivotal ... | Congenital malformation | EIF5A [HSA:1984] [KO:K03263] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |