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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 63 (DFNB63, LRTOMT) Profound hearing impairment Autosomal Recessive 11q13.3- q13.4. Missense LRTOMT 328G>A Glu110Lys Amino Acid Substitution 0/Ahmed et al., 2008