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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H01265 | Hydrolethalus syndrome | ... absent upper midline structures of the brain, micrognathia and polydactyly. HLS is caused by mutations in HYLS1 and KIF7. Both genes code for ciliary or centriolar proteins that seem to be involved in early ... | Congenital malformation |
(HLS1) HYLS1 [HSA:219844] [KO:K16472] (HLS2) KIF7 [HSA:374654] [KO:K18806] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |