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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 6 (DFNB6, TMIE) Profound hearing impairment Autosomal Recessive 3p21 Missense TMIE 92A>G Glu31Gly Amino Acid Substitution 0/Santos et al., 2006
Hearing Impairment 6 (DFNB6, TMIE) Profound hearing impairment Autosomal Recessive 3p21 Missense TMIE 241C>T Arg81Cys Amino Acid Substitution 0/Santos et al., 2006
Hearing Impairment 6 (DFNB6, TMIE) Profound hearing impairment Autosomal Recessive 3p21 Missense TMIE 241C>T Arg81Cys Amino Acid Substitution 0/Naz et al., 2002
Hearing Impairment 6 (DFNB6, TMIE) Profound hearing impairment Autosomal Recessive 3p21 Missense TMIE 274C>T Arg92Trp Amino Acid Substitution 0/Naz et al., 2002