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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
Mirror Movements 3 (MRMV3, DNAL4) involuntary movements on one side etc Autosomal Recessive 22q13.1 Splice site DNAL4 153+2T>C 0/Ahmed et al., 2014