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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 1219T>C Cys407Arg Amino Acid Substitution 0/Ben-Yosef et al., 2001
Hearing Impairment 8/10 (DFNB8/10, TMPRSS3) Prelingual hearing impairment Autosomal Recessive 21q22.3 Missense TMPRSS3 325C>T Arg109Trp Amino Acid Substitution 0/Ben-Yosef et al., 2001
Hearing Impairment 8/10 (DFNB8/10, TMPRSS3) Prelingual hearing impairment Autosomal Recessive 21q22.3 Missense TMPRSS3 581G>T Cys194Phe Amino Acid Substitution 0/Ben-Yosef et al., 2001
Hearing Impairment 8/10 (DFNB8/10, TMPRSS3) Prelingual hearing impairment Autosomal Recessive 21q22.3 Deletion TMPRSS3 207delC Frame shift mutation 0/Ahmed et al., 2004