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19 Cards in this Set
- Front
- Back
PKU: Phenylketonuria |
Lack of hydroxilating of Phenylanine. Mental retardation, delayed development, small skull, musty odor. |
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Duchenne Muscular Dystrophy |
Extremely weak muscles, lack of distrophin, wheel chair by 12, death by 20 |
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CEP, Gunther's Disease |
Red Skin Tint, Photosensitivity, Red/Brown Teeth, Redish-pink urine. |
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Marfane Syndrome |
Tall, very skinny, much longer arms and legs, sight problems, long narrow face, heart issues. fiibrilin-1 mutation |
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MSUD |
Thymine deficiency, delayed mental development, vomiting, refusal to eat, brown urine |
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MERRF |
Mitochondrial disease, red pigments, dementia, hearing loss, sight loss, short stature |
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Cystic Fibrosis |
Damage to lungs, digestive, and reproductive systems. Mucus buildup in lungs and other areas. |
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Neurofibromatosis |
Tumors in central nervous system, abnormal growth on retina, pain in nerves. |
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Fragile X Syndrome |
Intellectual Disabilities, Autisim like behaviors, narrow face, long ears, FMRI Gene, Small X section that may break off. |
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Hemochromatosis |
Disrupts iron regulation, joint pain, bronze skin, diabetes, 40-50 years old. |
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Xeoderma Pigmentosom |
Dry, pigmented skin, photosensitivy, skin cancer, patches all over skin, warts. |
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Familial Hypercholesterolemia |
more cholestoral, in ability to remove excess, few LDL. Chest pain, warts on eyes and feet. |
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Epidermolysis Bullosa |
Fragile blistering skin caused by minor rubbing, blisters, mishapen nails, rougher skin, can lead to blistering of intestines. |
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Ostogenesis Imperfecta |
Imperfect bone formation, fragile bones, brittle teeth, deafness, bowed legs. |
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Hotchinson-Gilford Progeria |
Hair loss, scalp veins, concave nose, thin lips, joint dislocation, death around mid teens, high cholestoral |
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Hutington Disease |
30-50 years, swallowing issues, uncontrolled movements |
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Hemophilia A |
longer bleeding, harder for blood clots to form, bruising, joint bleeds, blood in urine, bleeding in skull. |
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Tay-Sachs Disease |
destroys nerve cells in spinal cord and brain, Jewish culture, infants can't crawl or sit, early seizures, blind and deafness |
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Lesch-Nyhan Syndrome |
affects breaking down purines, swelling, kidney stones, self-harm behavior patterns, kidney failures. |