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Details Of Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Costeff Optic Atrophy Syndrome (OPA3) Dystonia,Subtle choreiform &myoclonic etc Autosomal Recessive 19q13.32 Missense OPA3 32T>A Leu11Gln Amino Acid Substitution Arif et al., 2013/2013