Tay Sachs disease
Angelman Syndrom
Neurofibromatosis
Huntington's Disease
Marfan syndrome
Cystic Fibrosis
Familial adenomatous polyposis
Ehlers-Danlos syndrom
G6PD deficiency
Wilson's disease
Autosomal recessive disease affecting lungs and pancreas.
Mutation of NF1 gene, decreased neurofibromin production, tumors, cafe-au-lait spots
Disorder of copper metabolism
Metabolic enzyme, disruption of gene results in RBC hemolysis
Loss of specific genes on chromosome 15, maternal chromosome most affected, developmental delays
Disruption of collagen gene, joint hypermobility, skin hyperelasticity
Autosomal dominant, fibrillin-1 gene; tall, lanky structure, heart murmur
Mutation on chromosome 15, disruption of lysosomal enzyme, cognitive impairment, ganglioside accumulation
Autosomal dominant, adult-onset, degeneration of neuron, movement disfunction
APC gene disrupted, increased risk of colon cancer
