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Entry | Name | Description | Category | Pathway | Gene |
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H02688 | Dworschak-Punetha neurodevelopmental syndrome | ... mainly comprising developmental delay, brain, and eye anomalies. It has been reported that mutations in PLXNA1 cause this disease. PLXNA1 encodes plexin A1, a transmembrane protein highly expressed in the ... | Congenital malformation | PLXNA1 [HSA:5361] [KO:K06820] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |