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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
Hermansky-Pudlak Syndrome (HPS4) oculocutaneous albinism, platelet dysfunction Autosomal Recessive 22q12.1 Splice site HPS4 276+5G>A Splicing error Frame shift mutation Yousaf et al., 2016/2016