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Entry Name Description Category Pathway Gene
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]
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