Hemophilia         By: Alex Gray

*Hemophilia is a disease where there is little clotting factor. Its a sex linked trait. The symptoms of this disease are nose bleeds, blood in the urine, and bruising. The test use to detect this disease is just a simple blood test. Its located on the x chromosome. The average age of diagnosis is 1 month old.

Tay Sachs

Tay sachs destroys nerve cells. The average age is 6 months. You can determine this by a blood test. Its located on chromosome 15, and it is a autosomal trait. the symptoms are developmental regression, and seizures.  

Sickle cell

sickle cell produces abnormally shaped red blood cells that have a crescent or sickle cell. The average age is new born, and you can determine this by a new born screening. Its on the chromosome 11p and is autosomal recessive. Some symptoms are episodes of pain, hand and foot syndrome, and frequent infections.   

muscular dystrophy

muscular dystrophy is deterioration of the skeletal muscles that control movement. The average age is infancy or middle age this can be checked by a physical exam. Its located on the x chromosome and is a sex linked trait. some symptoms are limb gridle, muscle weakness, and congenital.

PKU

PKU is when toxic levels of phenylalanine are in the body. this is developed in newborns. can be determined by a blood test. Located on the chromosome 12g, and is a sex linked trait. some symptoms are amicoaciduria, and cognitive impairment.

Huntington disease

this is a inherited disease that causes the porgessive breakdown of nerve cells in the brain. Usually diagnosis is around 35-44 years old,  a physical exam should be the most reasonable test. its located on the 4 chromosome, and is autosomal. some symptoms are abnormality of movement, and behavior abnormality.

colorblindness

colorblindness has difficulty distinguishing colors such as red green blue and yellow. the average age is to get this is during childhood. you can get a eye test to determine if you have it or not. its located on chromosome  2 and is autosomal. some symptoms are difficulty seeing colors.

perkinsons disease

Parkinson's is a progressive disorder in the nerve system, it affects the nerves. the average age is 62 years old, there are no tests for this disease. its on the 4 and 6 chromosome and is autosomal. some symptoms are tremorring of hands and stiffness.

dwarfism

short stature that results from genetic or medical disorder the average age is  30s to 40s. a physical exam could determine this. its located on the 4 chromosome and is autosomal. some symptoms are jerking or writhing movement, muscle problems, and slow or abnormal eye movement.

down syndrome

is a genetic disorder caused by abnormal cell delusion, extra genetic material from chromosome 21. developed as a baby a baby screening can determine this. its on chromosome 21 and is autosomal. some symptoms are flattening facial expressions, and small head.  

cystic fibrosis

cystic fibrosis is a life threating disease that causes severe damage to the lungs. the average age you can get it is at a new born. you can get tested by getting a lung test. its located on the seventh chromosome and is autosomal. some symptoms are persistent cough, wheezing, breathlessness, and lung infections.

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