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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
Split Hand/Foot Malformation Type 1 (DLX5) split hands & feet Autosomal Dominant 7q21.2-21.3 Duplication DLX5 482_485dupACCT Ala163Profs*55 Frame shift mutation & PTC 0/Ullah et al., 2016