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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 8/10 (DFNB8/10, TMPRSS3) Prelingual hearing impairment Autosomal Recessive 21q22.3 Missense TMPRSS3 726C>G Cys242Trp Amino Acid Substitution 0/Shafique et al., 2014