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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
Hearing Impaiment (TRIOBP) Hearing loss Autosomal Recessive 22q13.1 Delation TRIOBP c.3460_3461delCT p.(Leu1154Alafs*29) Frameshift Richard et al., 2019/2019
Hearing Impaiment (TRIOBP) Hearing loss Autosomal Recessive 22q13.1 Delation TRIOBP c.3634_3646delCTGATCCCCCAAG p.(Leu1212Cysfs*22) Frameshift Richard et al., 2019/2019
Hearing Impaiment (TRIOBP) Hearing loss/Deafness 28 Autosomal Recessive 22q13.1 Substitution TRIOBP c.1952C>T p.Ser651Phe Missense Zhou et al., 2020/2020