o Due to a mutation, causes a mucousy thick discharge to develop in lungs and other organs
o Builds up and causes compromised ability to oxygenate blood

o Can’t make pigment in skin

o Metabolic disorder
o Genetic mutation where the affected people make a faulty enzyme that messes up metabolic reactions
o Amino acid builds up in cells – can be toxic – can compromise cell function

o Progressive neuro-degenerative disease after about a year
o In most cases it is fatal; can live into teens (2nd decade of life)

o Only passed down by carriers, not by those affected

o Dwarfism
o Short long-bones in development

o Neuro-muscular degenerative disease
o Progressive degeneration of motor neurons that instruct muscles to move
o Symptoms don’t typically show up until 40s or 50s

o Genetic form of seriously high cholesterol

o Blood clotting deficiency

o Degenerative muscle wasting disorder – skeletal muscles degenerate over time
o Will affect more males than females

o Reds and greens look like shades of gray
o Affects more males than females

o Skin disorder where you develop a scaly appearance to the skin

Rare Skin condition
o Have a lot more hair follicles than normal – mostly see it on face and neck – make dark thick hairs like on your head/eyebrows – werewolf

Skin condition
o Causes skin rashes in girls; boys die before birth
o Blotches become wart-like and hard over time

Albinism

Cystic Fibrosis

PKU

Tay-Sachs

Achondroplasia

Huntington's Disease

- Familial Hypercholesterolemia

Hemophilia A/B

Muscular Dystrophy

Color Blindness

Ichyosis

- Hypertrichosis

- Incontinentia Pigmenti