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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(USH1G) hearing loss Autosomal Recessive 17q25.1 Missense Mutation USH1G 1093G >A Asp365Asn Missense Mutation and PTC 0/Schrauwen I et.al,...2018