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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 97 (DFNB97, MET) severe sensorineural hearing loss Autosomal Recessive 7q31.2 Missense MET 2521T>G Phe841Val Amino Acid Substitution 0/Mujtaba et al., 2015