Erstellt von kkraynak11
vor mehr als 11 Jahre
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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