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Details Of Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
COH1 Ocular, neural and muscular deficits Autosomal Recessive 8q22 Deletion VPS13B 6879delT Phe2293Leufs*24 Frame shift mutation & PTC Rafiq et al., 2015/2015
COH1 Ocular, neural and muscular deficits Autosomal Recessive 8q22 Gross Deletion VPS13B chr8:100728884_100779911del Gly2177Alafs*16 Frame shift mutation & PTC Rafiq et al., 2015/2015