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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
UV-Sensitive Syndrome (UVSSA) photosensitivity, and hyperpigmentation, freckling, and dryness of sun exposed areas Autosomal Recessive 4p16.3 nonsense mutation UVSSA 1040G>A Trp347* Pre-mature Termination Ijaz et al., 2019/2019