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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 38 (DFNB38) Profound prelingual hearing impairment Autosomal Recessive 6q26?q27 0/Ansar et al., 2003
Hearing Impairment 35 (DFNB35, ESRRB) severe to profound hearing loss Autosomal Recessive 14q24.1?4q24.3 0/Ansar et al., 2003
Hearing Impairment 44 (DFNB44, ADCY1) Profound prelingual hearing impairment Autosomal Recessive 7p14.1-q11.22 0/Ansar et al., 2004
Hearing Impairment 42 (DFNB42, ILDR1) Prelingual hearing impairment Autosomal Recessive 3q13.31-q22.3 0/Aslam et al., 2005
Hearing Impairment 51 (DFNB51) Prelingual hearing impairment Autosomal Recessive 11p13-p12 0/Shaikh et al., 2005
Hearing Impairment 47 (DFNB47) Prelingual hearing impairment Autosomal Recessive 2p25.1-p24.3 0/Hassan et al., 2006
Hearing Impairment 63 (DFNB63, LRTOMT) Prelingual hearing impairment Autosomal Recessive 11q13.2-q13.3 0/Khan et al., 2007
Hearing Impairment 39 (DFNB39, HGF) Profound prelingual hearing impairment Autosomal Recessive 7q11.22?q21.12 0/wajid et al., 2003
Hearing Impairment 46 (DFNB46) Prelingual profound hearing impairment Autosomal Recessive 18p11.32-p11.31 0/Mir et al., 2005
Hearing Impairment 49 (DFNB49, MARVELD2) Profound hearing impairment Autosomal Recessive 5q12.3-q14.1 0/Ramzan et al., 2005
Hearing Impairment 90 (DFNB90) severe to profound hearing loss Autosomal Recessive 7p22.1-p15.3 0/Ali et al., 2011
Hearing Impairment 79 (DFNB79, TPRN) severe to profound hearing loss Autosomal Recessive 9q34.3 0/Khan et al., 2010
Hearing Impairment 20 (DFNB20) Hearing impairment Autosomal Recessive 11q25-qter 0/Moynihan et al., 1999
Hearing Impairment 55 (DFNB55) Prelingual profound hearing impairment Autosomal Recessive 4q12-q13.2 0/Irshad et al., 2005
Hearing Impairment 65 (DFNB65) Profound hearing impairment Autosomal Recessive 20q13.2?q13.32 0/Tariq et al., 2006
Hearing Impairment 68 (DFNB68, S1PR2) Prelingual hearing impairment Autosomal Recessive 19p13.2 0/Santos et al., 2006
Hearing Impairment 71 (DFNB71) Prelingual profound hearing impairment Autosomal Recessive 8p22-21.3 0/Chishti et al., 2009
Hearing Impairment 86 (DFNB86, TBC1D24) Profound hearing impairment Autosomal Recessive 16p13.3 0/Ali et al., 2012