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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 49 (DFNB49, TRIC, MARVELD2) Profound hearing impairment Autosomal Recessive 5q12.3-q14.1 Splice site TRIC, MARVELD2 IVS4+1G>A Frame shift mutation 0/Chishti et al., 2008