Relier Pairs Patho: Genetic DiseaseVersion en ligne Match the disease name with its description par Rebecca Edmiston 1 Familial adenomatous polyposis 2 Neurofibromatosis 3 G6PD deficiency 4 Huntington's Disease 5 Marfan syndrome 6 Ehlers-Danlos syndrom 7 Wilson's disease 8 Cystic Fibrosis 9 Angelman Syndrom 10 Tay Sachs disease Autosomal recessive disease affecting lungs and pancreas. Disorder of copper metabolism APC gene disrupted, increased risk of colon cancer 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 Autosomal dominant, adult-onset, degeneration of neuron, movement disfunction Metabolic enzyme, disruption of gene results in RBC hemolysis Mutation on chromosome 15, disruption of lysosomal enzyme, cognitive impairment, ganglioside accumulation Autosomal dominant, fibrillin-1 gene; tall, lanky structure, heart murmur Disruption of collagen gene, joint hypermobility, skin hyperelasticity
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