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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]
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