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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 (WDR72) hypomaturation AI Autosomal Recessive 15q21.3 Nonsense WDR72 2728C>T Ser783* Premature Termination 0/El-Sayed et al., 2011
Amelogenesis I Hypomaturation,IIA3 hypomaturation AI Autosomal Recessive 15q21.3 Nonsense WDR72 2728C>T Trp978* Premature Termination 0/El-Sayed et al., 2011