×

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 21 (DFNB21, TECTA) Prelingual hearing impairment Autosomal Recessive 11q23.3 Deletion TECTA 6037delG Frame shift mutation & PTC 0/Naz et al., 2003