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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
ALMS dyspnea, body edema,cardiomyopathy etc Autosomal Recessive 2p13.1 Gross Deletion ALMS1 9911_11550del Asn3306Lysfs*7 Frame shift mutation & PTC Nikopoulos et al., 2015/2015