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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 35 (DFNB35, ESRRB) severe to profound hearing loss Autosomal Recessive 14q24.3?q34.12 Missense ESRRB 1024G>T Val342Leu Amino Acid Substitution 0/Collin et al., 2008
Hearing Impairment 35 (DFNB35, ESRRB) severe to profound hearing loss Autosomal Recessive 14q24.3?q34.12 Missense ESRRB 329C>T Ala110Val Amino Acid Substitution 0/Collin et al., 2008
Hearing Impairment 35 (DFNB35, ESRRB) severe to profound hearing loss Autosomal Recessive 14q24.3?q34.12 Missense ESRRB 959T>C Leu320Pro Amino Acid Substitution 0/Collin et al., 2008
Hearing Impairment 35 (DFNB35, ESRRB) severe to profound hearing loss Autosomal Recessive 14q24.3?q34.12 Missense ESRRB 1040C>T Leu347Pro Amino Acid Substitution 0/Collin et al., 2008
Hearing Impairment 35 (DFNB35, ESRRB) severe to profound hearing loss Autosomal Recessive 14q24.3?q34.12 Deletion ESRRB 1018_1020delGAG Glu340del 0/Lee et al., 2011