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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
Amelogenesis imperfecta type IG (FAM20A) gingival hyperplasia and dental abnormalities Autosomal Recessive 17q24.2 Duplication FAM20A 174-175dup29 Frame shift mutation & PTC 0/Cabral et al., 2013