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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 88 (DFNB88, ELMOD3) severe to profound hearing loss Autosomal Recessive 2p12-p11.2 Missense ELMOD3 794T>C Leu265Ser Amino Acid Substitution 0/Jaworek et al., 2013