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1 Earlyonset isolated dystonia Description Earlyonset isolated dystonia is one of many forms of dystonia which is a group of muscle contractionsmuscle contractions tremorstremors other uncontrolle. 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 1PIGA genephosphatidylinositol glycan anchor biosynthesis class ANormal FunctionThe PIGA gene provides instructions for making a protein called phosphatidylinositol glycan class A This protein takes p 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 ANTXR2 gene ANTXR cell adhesion molecule 2 Normal Function The ANTXR2 gene provides instructions for making a protein that is found at the surface of many types of cells. The ANTXR2 protein is be 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 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 Terminal osseous dysplasia Description Terminal osseous dysplasia is a disorder primarily involving skeletal abnormalities and certain skin changes. It is a member of a group of related conditions 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 Stickler syndrome Description Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These sign