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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
Hypomyelination,Brain Stem&SpinalCord (DARS2) leukoencephalopathy, HBSL Autosomal Recessive 2q21.3 Missense DARS2 766A>C Met256Leu Amino Acid Substitution Taft et al., 2013/2013