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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
Woodhouse Sakati Syndrome (DCAF17) alopecia,hypogonadism,DEM,diabetes etc Autosomal Recessive 2q31.1 Deletion DCAF17 270delA Lys90Asnfs8* Frame shift mutation & PTC Ali et al.,2015/2015