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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 (HPS8) oculocutaneous albinism, bleeding diathesis Autosomal Recessive 19q13 Deletion BLOC1S3 448delC Gln150Argfs*75 Frame shift mutation & PTC Morgan et al., 2005/2005