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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
Frontonasal Dysplasia 3 (FND3, ALX1) hypertelorism,prominent nasal bridge etc Autosomal Recessive 12q21.31 Splice site ALX1 661-1G>C Frame shift mutation & PTC 0/Ullah et al., 2016