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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 68 (DFNB68, S1PR2) Prelingual hearing impairment Autosomal Recessive 19p13.2 Missense S1PR2 323G>C Arg108Pro Amino Acid Substitution 0/Santos-Cortez et al., 2016
Hearing Impairment 68 (DFNB68, S1PR2) Prelingual hearing impairment Autosomal Recessive 19p13.2 Missense S1PR2 419A>G Tyr140Cys Amino Acid Substitution 0/Santos-Cortez et al., 2016