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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 59 (DFNB59, PJVK) moderate-to severe hearing loss Autosomal Recessive 2q31.2 Missense PJVK 1028 G>C Cys343Ser Amino Acid Substitution 0/Mujtaba et al., 2012