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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 (HPS9) oculocutaneous albinism, platelet dysfunction Autosomal Recessive 15q21.1 Nonsense HPS9 232C>T Gln78* Premature Termination Cullinane et al., 2011/2011