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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 39 (DFNB39, HGF) Profound prelingual hearing impairment Autosomal Recessive 7q11.22?q21.12 HGF 482?1986_1988delTGA 0/Schultz et al., 2009
Hearing Impairment 39 (DFNB39, HGF) Profound prelingual hearing impairment Autosomal Recessive 7q11.22?q21.12 HGF 482+1991_2000del 0/Schultz et al., 2009
Hearing Impairment 39 (DFNB39, HGF) Profound prelingual hearing impairment Autosomal Recessive 7q11.22?q21.12 Splice site HGF 495G>A 0/Schultz et al., 2009