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