Hemophilia

People with Hemophilia suffer from bleeding a lot caused by small injuries. The average age of diagnosis is around 7 months. They use a blood test to detect it. It is located on the x chromosome. Only males get hemophilia. Bleeding does not stop as well as normal and sometimes they bleed for no reason.

Tay Sachs

People with Tay Sachs are missing enzymes and fatty substances accumulate in the nervous system. The average age of diagnosis is 4 months. A blood test is used to detect the illness. Found on the Hexa gene. It is autosomal. Symptoms are muscle weakness and speech impediments.

Sickle Cell

Sickle cell is when red blood cells cant carry enough oxygen. The average age of finding the disease if 5 months. The blood test is used to detect it. The hbb gene is where it is found. It is autosomal. Shortness of breath, sharp pains, and dizziness are all symptoms of sickle cell.

Muscular Dystrophy

People with the disease muscular dystrophy suffer from progressive weakness of muscles. Average age of detection is 2 to 3 years of age. Doctors use a blood test to find it. Found on dd gene. It is autosomal. Falling, waddling, walking on toes, and muscle pain are signs of this illness.

Colorblindness

Colorblindness is the inability to see certain colors. The age of diagnosis varies. They use a vision test to find it. It is genetic most of the time. Colorblindness is autosomal.  

Parkinson's

This illness is a brain disorder. Diagnosis occurs around 40 years or younger. This illness is possibly genetic. Sufferers of parkinson's deal with tremors, slowed movement, and uncontrollable movement of limbs.

PKU

It is the inability to break down amino acids. Age of diagnosis is 2 weeks. The detection test is infant screening. It's genetic. PKU is autosomal. The symptoms are seizures, mental disability, small head, light hair and skin.

Huntington Disease

The degeneration of nerve cells in the brain. 2 to 80 years old is the average age of diagnosis. The test for detection is brain imaging tests. It is genetic. Huntington disease is autosomal. The symptoms are jerky, twisting, and restless movement of head.

Dwarfism

Dwarfism results in short stature as an adult. Diagnosis happens around 1 year of age. X-rays and physicals detect this disease. It is usually genetic and is autosomal. Late development of motor skills and small size are symptoms of Dwarfism.

Down Syndrome

Down Syndrome is the intellectual impairment and physical abnormalities of a person. The average age of diagnosis is at birth. An infant screening detects the disease. It is typically genetic and autosomal. The symptoms of Down Syndrome are flat facial features, small head, short neck, slanted eyes, and protruding tongue.

Cystic Fibrosis

People who suffer from Cystic Fibrosis also suffer from thick mucus that blocks the pancreatic ducts, intestines, and the respiratory system. It is usually found around the age of 2 months. An infant screening is what detects it. This illness is genetic and autosomal. Some symptoms are high salt content in sweat. thick mucus, and a low ability to exercise.

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