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Details Of Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Usher Syndrome type 1J (CIB2) Hearing loss, RP Autosomal Recessive 15q23-q25.1 Missense CIB2 368T>C Ile123Thr Amino Acid Substitution Riazuddin et al., 2012/2012