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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 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 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 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 Dermatofibrosarcoma protuberans Description Dermatofibrosarcoma protuberans is a rare type of cancer that causes a tumor in the deep layers of skin. This condition is a type of soft tissue sarcoma, 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 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 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 X-linked severe combined immunodeficiency Description SCIDSCID immune system that occurs almost exclusively in males. Children with X-linked SCID are prone to recurrent and persistent infections be 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 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