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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 74 (DFNB74, MSRB3) Prelingual hearing impairment Autosomal Recessive 12q14.2-q15. MSRB3 0/Waryah et al., 2009
Hearing Impairment 74 (DFNB74, MSRB3) Prelingual hearing impairment Autosomal Recessive 12q14.2-q15. Missense MSRB3 265T>G Cys89Gly Amino Acid Substitution 0/Ahmed et al., 2011
Hearing Impairment 74 (DFNB74, MSRB3) Profound hearing impairment Autosomal Recessive 12q14.2-q15. Nonsense MSRB3 55C>T Arg19* Premature Termination 0/Ahmed et al., 2011