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