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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H01908 | Carey-Fineman-Ziter syndrome | ... palsy of the 6th and 7th cranial nerves. It has been reported that autosomal recessive mutations in MYMK cause CFZS. Myomaker, encoded by MYMK, is expressed on the cell surface of myoblasts during fusion ... | Congenital malformation |
(CFZS1) MYMK [HSA:389827] [KO:K24577] (CFZS2) MYMX [HSA:101929726] [KO:K24578] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |