Relacionar Columnas Patho: Genetic DiseaseVersión en línea Match the disease name with its description por Rebecca Edmiston 1 Angelman Syndrom 2 Tay Sachs disease 3 Neurofibromatosis 4 Cystic Fibrosis 5 G6PD deficiency 6 Wilson's disease 7 Huntington's Disease 8 Ehlers-Danlos syndrom 9 Familial adenomatous polyposis 10 Marfan syndrome Loss of specific genes on chromosome 15, maternal chromosome most affected, developmental delays Mutation of NF1 gene, decreased neurofibromin production, tumors, cafe-au-lait spots Metabolic enzyme, disruption of gene results in RBC hemolysis Disorder of copper metabolism Autosomal recessive disease affecting lungs and pancreas. Autosomal dominant, fibrillin-1 gene; tall, lanky structure, heart murmur Mutation on chromosome 15, disruption of lysosomal enzyme, cognitive impairment, ganglioside accumulation Autosomal dominant, adult-onset, degeneration of neuron, movement disfunction APC gene disrupted, increased risk of colon cancer Disruption of collagen gene, joint hypermobility, skin hyperelasticity
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