Relacionar Columnas Patho: Genetic DiseaseVersión en línea Match the disease name with its description por Rebecca Edmiston 1 G6PD deficiency 2 Ehlers-Danlos syndrom 3 Marfan syndrome 4 Neurofibromatosis 5 Cystic Fibrosis 6 Tay Sachs disease 7 Familial adenomatous polyposis 8 Wilson's disease 9 Huntington's Disease 10 Angelman Syndrom Metabolic enzyme, disruption of gene results in RBC hemolysis 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 Mutation on chromosome 15, disruption of lysosomal enzyme, cognitive impairment, ganglioside accumulation Mutation of NF1 gene, decreased neurofibromin production, tumors, cafe-au-lait spots Autosomal recessive disease affecting lungs and pancreas. Loss of specific genes on chromosome 15, maternal chromosome most affected, developmental delays Disorder of copper metabolism
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