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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 7/11 (DFNB7/11, TMC1) Profound hearing loss Autosomal Recessive 9q34.3 Splice Site TMC1 1696-1G>A FS & PTC 0/Umair et al., 2017