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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
Ichthyosis Congenital (PNPLA1) dry,dark brown,abnormal sweat&hyperthermia Autosomal Recessive 6p22.3-p21.2 Missense PNPLA1 102C>A Asp34Glu Amino Acid Substitution 0/Farooq et al., 2016