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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
Hypotrichosis with Recurrent Skin Vesicles (DSC3) ragile hair on scalp, as well as absent eyebrows and eyelashes. Vesicles filled with thin, watery fluid were observed on the affected individuals' scalps and on most of the skin covering their bodies Autosomal Recessive 18q12.1 nonsense mutation DSC3 2129T>G Leu710X Pre-mature Termination Ayub et al., 2009/2009