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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 42 (DFNB42, ILDR1) Prelingual hearing impairment Autosomal Recessive 3q13.31-q22.3 Nonsense ILDR1 1135G>T Glu379* Premature Termination 0/Borck et al., 2011
Hearing Impairment 42 (DFNB42, ILDR1) Profound prelingual hearing impairment Autosomal Recessive 3q13.31-q22.1 Missense ILDR1 3G>A Met1? 0/Borck et al., 2011
Hearing Impairment 42 (DFNB42, ILDR1) Profound prelingual hearing impairment Autosomal Recessive 3q13.31-q22.1 Deletion ILDR1 59-5_88del exon 2 del 0/Borck et al., 2011
Hearing Impairment 42 (DFNB42, ILDR1) Profound prelingual hearing impairment Autosomal Recessive 3q13.31-q22.1 Missense ILDR1 290G>A Arg97Gln Amino Acid Substitution 0/Borck et al., 2011
Hearing Impairment 42 (DFNB42, ILDR1) severe to profound hearing loss Autosomal Recessive 3q13.31-q22.1 Deletion ILDR1 411delG Trp137Cysfs*25 Frame shift mutation & PTC 0/Borck et al., 2011
Hearing Impairment 42 (DFNB42, ILDR1) Profound prelingual hearing impairment Autosomal Recessive 3q13.31-q22.1 Missense ILDR1 1387C>T Arg463Cys Amino Acid Substitution 0/Borck et al., 2011
Hearing Impairment 42 (DFNB42, ILDR1) Profound prelingual hearing impairment Autosomal Recessive 3q13.31-q22.1 Splice site ILDR1 499+1G>A 0/Borck et al., 2011
Hearing Impairment 42 (DFNB42, ILDR1) Profound prelingual hearing impairment Autosomal Recessive 3q13.31-q22.1 Deletion ILDR1 1032delG Thr345Profs*20 Frame shift mutation & PTC 0/Borck et al., 2011
Hearing Impairment 42 (DFNB42, ILDR1) Profound prelingual hearing impairment Autosomal Recessive 3q13.31-q22.1 Deletion ILDR1 1180delG Glu394Serfs*15 Frame shift mutation & PTC 0/Borck et al., 2011
Hearing Impairment 42 (DFNB42, ILDR1) Profound prelingual hearing impairment Autosomal Recessive 3q13.31-q22.1 Missense ILDR1 1358G>A Arg453Gln Amino Acid Substitution 0/Borck et al., 2011