Neurofibromatosis
Huntington's Disease
Ehlers-Danlos syndrom
Marfan syndrome
Familial adenomatous polyposis
Wilson's disease
G6PD deficiency
Tay Sachs disease
Angelman Syndrom
Cystic Fibrosis
Disorder of copper metabolism
APC gene disrupted, increased risk of colon cancer
Mutation on chromosome 15, disruption of lysosomal enzyme, cognitive impairment, ganglioside accumulation
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
Autosomal dominant, fibrillin-1 gene; tall, lanky structure, heart murmur
Autosomal recessive disease affecting lungs and pancreas.
Disruption of collagen gene, joint hypermobility, skin hyperelasticity
Metabolic enzyme, disruption of gene results in RBC hemolysis
