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1 FBLN5 gene fibulin 5 Normal Function The FBLN5 gene provides instructions for making a protein called fibulin5 This protein is part of a group of proteins called fibulins Fibulins have a varie. 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 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 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 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 Dupuytren contracture Description Dupuytren contracture is characterized by a deformity of the hand in which the joints of extendedextended flexedflexed supports the body's muscles, joints, organs, 1 Dyskeratosis congenita Description Dyskeratosis congenita is a disorder that can affect many parts of the body. There are three features that are characteristic of this disorder: fingernails and to 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 EGFR gene epidermal growth factor receptor Normal Function The EGFR gene provides instructions for making a receptor protein called the epidermal growth factor receptor, which spans the cell memb 1 Ellis-van Creveld syndrome Description Ellis-van Creveld syndrome is an inherited disorder of bone growth that results in very dwarfismdwarfism lower legs and a narrow chest with short ribs. Ellis- 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 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