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1 Isolated Duane retraction syndrome Description Isolated Duane retraction syndrome is a disorder of eye movement This condition toward the eartoward the ear toward the nosetoward the nose retractsr. 1 How Genes Work 1 What are proteins and what do they do? Proteins are large, complex molecules that play many critical roles in the body. They do most of the work in cells and are required for t 1 HEXA gene hexosaminidase subunit alpha Normal Function The HEXA subunitsubunit beta-hexosaminidase A. Specifically, the protein produced from the HEXA gene forms the alpha subunit of this enzyme 1MelanomaDescriptionMelanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes This cancer typically occurs in areas that are only occasionally sun-exposed tumors are 1 Ankylosing spondylitis Description Ankylosing spondylitis is a form of painful, ongoing joint inflammation (chronic inflammatory arthritis) that primarily affects the spine. Early symptoms of anky 1 Chronic myeloid leukemia Description Chronic myeloid leukemia is a slow-growing cancer of the blood-forming tissue (bone erythrocyteserythrocytes leukocytesleukocytes( thrombocytes) that are involv 1 Age-related macular degeneration Description Age-related macular degeneration is an eye disease that is a leading cause of vision loss in older people in developed countries. Subtle abnormalities i 1 Alpers-Huttenlocher syndrome Description Alpers-Huttenlocher syndrome is one of the most severe of a group of conditions called the POLG -related disorders. The conditions in this group feature a 1 Childhood absence epilepsy Description epilepsyepilepsy . This condition begins in childhood, usually between ages 3 and 8. Affected children also known as petit mal seizuresalso known as petit mal 1 Parkinson disease Description Parkinson disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra th 1 Sandhoff disease Description Sandhoff disease is a rare inherited disorder that progressively destroys nerve cells ( central nervous systemcentral nervous system classified into three major types ba 1 Familial hyperaldosteronism Description Familial hyperaldosteronism is a group of inherited conditions in which the adrenal glands, which are small glands located on top of each kidney, produce too 1 Hypertension Description Hypertension is abnormally high blood pressure in the arteries, which are the blood vessels that carry blood from the heart to the rest of the body. As the heart beats, it 1 Nail-patella syndrome Description Nail-patella syndrome is characterized by abnormalities of the nails, knees, elbows, and pelvis. The features of nail-patella syndrome vary in severity between aff 1 Y chromosome infertility Description Y chromosome infertility is a condition that affects the production of sperm and causes male infertility, which means it is difficult or impossible for affected