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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 3 (DFNB3, MYO15A) Hearing loss Autosomal Recessive 17p11.2 Splice site MYO15A c.9518-2A>G - - Khan et al., 2019/2019
Hearing Impairment 3 (DFNB3, MYO15A) Hearing loss Autosomal Recessive 17p11.2 Missense MYO15A 8222T>C Phe2741Ser Amino Acid Substitution 0/Shafique et al., 2014
Hearing Impairment 3 (DFNB3, MYO15A) Hearing loss Autosomal Recessive 17p11.2 Nonsense MYO15A 8767C>T Arg2923* Premature Termination 0/Shafique et al., 2014