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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 23 (DFNB23, PCDH15) Profound hearing impairment Autosomal Recessive 10q21.1 Missense PCDH15 400C>G Arg134Gly Amino Acid Substitution 0/Ahmed et al., 2008