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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
Usher Syndrome type 1C (USH1C) Hearing loss, RP Autosomal Recessive 11p15.1 Insertion USH1C 238-239insC 68fs148* Frame shift mutation & PTC Verpy et al., 2000/2000