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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 21 (DFNB21, TECTA) Prelingual hearing impairment Autosomal Recessive 11q23.3 Deletion TECTA 6037delG Frame shift mutation & PTC 0/Naz et al., 2003
Hearing Impaiment (TECTA) Hearing loss Autosomal Recessive 11q23.3 Insertion TECTA c.840_841insT p.(Val281Cysfs*11) Frameshift Richard et al., 2019/2019
Hearing Impaiment (TECTA ) Hearing loss Autosomal Recessive 11q23.3 Delation TECTA c.1247_1248delGG p.(Gly416Aspfs*24) Frameshift Richard et al., 2019/2019
Hearing Impaiment (TECTA) Hearing loss Autosomal Recessive 11q23.3 Substitution TECTA c.1774G>A p.(Val592Met) Missense Richard et al., 2019/2019
Hearing Impaiment (TECTA) Hearing loss Autosomal Recessive 11q23.3 Substitution TECTA c.2736C>A p.(Cys912*) Nonsense Richard et al., 2019/2019
Hearing Impaiment (TECTA) Hearing loss Autosomal Recessive 11q23.3 Substitution TECTA c.6162+5G>A Splice error Splice error Richard et al., 2019/2019
Hearing Impaiment (TECTA) Hearing loss/Deafness 21 Autosomal Recessive 11q23.3 Substitution TECTA c.4045G>A p.Ala1349Thr Missense Zhou et al., 2020/2020