×

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 89 (DFNB89) moderate-to severe hearing loss Autosomal Recessive 16q21-q23.2 Missense KARS 1129G>A Asp377Asn Amino Acid Substitution 0/Santos-Cortez et al., 2013