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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
Ciliopathy Syndrome (BBS5) intellectual disability, obesity, congenital retinal dystrophy, and hypogonadism Autosomal Recessive 2q31.1 Deletion BBS5 196delA Arg66Glufs*12 FS & Pre-mature Termination Khan et al., 2019/2019