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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
Ataxia-Telangiectasia?Like Syndrome (AT) Ataxia, oculomotor apraxia, choreoathetosis Autosomal Recessive 9q34 - - - - - N?meth ET AL., 2000/2000