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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 48 (DFNB48, CIB2) Sensorineural hearing loss Autosomal Recessive 15q23-q25.1 Missense CIB2 272T>C Phe91Ser Amino Acid Substitution 0/Riazuddin et al., 2012
Hearing Impairment 48 (DFNB48, CIB2) Sensorineural hearing loss Autosomal Recessive 15q23-q25.1 Missense CIB2 297C>G Cys99Trp Amino Acid Substitution 0/Riazuddin et al., 2012