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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 28 (DFNB28, TRIOBP) Profound prelingual hearing impairment Autosomal Recessive 22q13 Nonsense TRIOBP 2362C>T Arg788* Premature Termination 0/Riazuddin et al., 2006
Hearing Impairment 28 (DFNB28, TRIOBP) Profound prelingual hearing impairment Autosomal Recessive 22q13 Nonsense TRIOBP 3202C>T Arg1068* Premature Termination 0/Riazuddin et al., 2006