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1 Progressive external ophthalmoplegia Description Progressive external ophthalmoplegia is a condition characterized by weakness of the eye muscles The condition typically appears in adults between. 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 1RARA generetinoic acid receptor alphaNormal FunctionThe RARA gene provides instructions for making a transcription factor called the retinoic acid receptor alpha RARa A transcription factor is a prot 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 Psoriatic arthritis Description arthritisarthritis in combination with a skin disorder called psoriasis. Psoriasis is a chronic inflammatory condition characterized by patches of red, irritated ski 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 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 Autosomal dominant partial epilepsy with auditory features Description ADPEAFADPEAF form of epilepsy that runs in families. This disorder causes seizures usually auditoryauditory ringing. Some peop 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 Pantothenate kinase-associated neurodegeneration Description Pantothenate kinase-associated neurodegeneration (formerly called Hallervorden-Spatz syndrome) is a disorder of the nervous system. This 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 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