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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 32 (DFNB32, CDC14A) Moderate to profound hearing loss, with or without immotile sperm Autosomal Recessive 1p21.2 Deletion CDC14A c.376delT Tyr126Ilefs64* Frameshift and PTC 2018/Imtiaz et al. 2018
Hearing impairment 32 (DFNB32, CDC14A) Moderate to profound hearing loss, with or without immotile sperm Autosomal Recessive 1p21.2 Nonsense CDC14A c.417C>G Tyr139* PTC 2018/Imtiaz et al. 2018
Hearing impairment 32 (DFNB32, CDC14A) Moderate to profound hearing loss, with or without immotile sperm Autosomal Recessive 1p21.2 Splice site CDC14A c.839-3C>G p.? Exon skipping 2018/Imtiaz et al. 2018
Hearing impairment 32 (DFNB32, CDC14A) Moderate to profound hearing loss, with or without immotile sperm Autosomal Recessive 1p21.2 Missense CDC14A c.959A>C Gln320Pro Amino acid substitution 2018/Imtiaz et al. 2018
Hearing impairment 32 (DFNB32, CDC14A) Moderate to profound hearing loss, with or without immotile sperm Autosomal Recessive 1p21.2 Nonsense CDC14A c.1033C>T Arg345* PTC 2018/Imtiaz et al. 2018
Hearing impairment 32 (DFNB32, CDC14A) Moderate to profound hearing loss, with or without immotile sperm Autosomal Recessive 1p21.2 Duplication CDC14A c.1041dup Ser348Glnfs*2 Frameshift and PTC 2020/Doll et al. 2020