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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H02666 | Chilton-Okur-Chung neurodevelopmental syndrome | ... disability, autism, hypotonia, and structural brain abnormalities. It has been reported that mutations in CDC42BPB cause this syndrome. CDC42BPB encodes myotonic dystrophy-related Cdc42-binding kinase beta (MRCKB) ... | Congenital malformation | CDC42BPB [HSA:9578] [KO:K16307] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |