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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
Autophagy Disorder Congenital (WIPI2) mental retardation, speech and language impairment and other neurological, psychiatric, skeletal and cardiac abnormalities Autosomal Recessive 7p22 Missense WIPI2 G745A V249M Amino Acid Substitution Jelani et al., 2019/2019