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Details Of NON Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Hearing Impairment 7/11 (DFNB7/11, TMC1) severe to profound hearing loss Autosomal Recessive 9q21.13 Splice site TMC1 362+18A>G Frame shift mutation 0/Shafique et al., 2014