Search Result

Top
1 to 1 of 1
Entry Name Description Category Pathway Gene
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]
1 to 1 of 1

[ KEGG | DISEASE | DRUG | MEDICUS ]