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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(PCDH15) severe to profound hearing loss Autosomal Recessive 10q21.1 Missense Mutation PCDH15 3101G>A Arg1034His Missense Mutation and PTC 0/Schrauwen I et.al,...2018
Hearing Loss(PCDH15) deafness Autosomal Recessive 10q21.1 Frameshift Mutation PCDH15 Deletion of exons 14 and 15 Deletion of exons 14 and 15 Frame Shift Mutation and PTC 0/Richard EM et.al.,,,2018