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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
DFNB101 (GRXCR2) Moderate to severe hearing loss Autosomal Recessive 5q32 Duplication GRXCR2 714dupT Gly239Trpfs*74 Frame shift mutation & PTC 2014/Imtiaz et al., 2014
DFNB101 (GRXCR2) Moderate to severe hearing loss Autosomal Recessive 5q32 Duplication GRXCR2 714dupT Gly239Trpfs*74 Frame shift mutation & PTC 2014/Imtiaz et al., 2014
DFNB101 (GRXCR2) Moderate to severe hearing loss Autosomal Recessive 5q32 Duplication GRXCR2 714dupT Gly239Trpfs*74 Frame shift mutation & PTC /Imtiaz et al., 2014
DFNB101 (GRXCR2) Moderate to severe hearing loss Autosomal Recessive 5q32 Duplication GRXCR2 714dupT Gly239Trpfs*74 Frame shift mutation & PTC /Imtiaz et al., 2014
Hearing Impairment 101 (DFNB101) Moderate to severe hearing loss Autosomal Recessive 5q32 Duplication GRXCR2 714dupT Gly239Trpfs*74 Frame shift mutation & PTC 2014/Imtiaz et al., 2014