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