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Entry | Name | Description | Category | Pathway | Gene |
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H02465 | Weiss-Kruszka syndrome | ... dominant disorder characterized by craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay. It has been reported that haploinsufficiency of ZNF462 is associated with this syndrome. | Congenital malformation | ZNF462 [HSA:58499] [KO:K24853] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |