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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 94 (DFNB94, NARS2) Profound hearing impairment Autosomal Recessive 11q14.1 Missense NARS2 637G>T Val213Phe Amino Acid Substitution 0/Simon et al., 2015