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1 Cystic fibrosis Description Cystic fibrosis is an inherited disease characterized by the buildup of thick sticky mucus that can damage many of the bodys organs The disorders most common signs a. 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 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 Atopic dermatitis Description also known as atopic eczemaalso known as atopic eczema dermatitisdermatitis often disappears before adolescence. However, in some affected individuals the condition co 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 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 Early-onset isolated dystonia Description Early-onset isolated dystonia is one of many forms of dystonia, which is a group of muscle contractionsmuscle contractions tremorstremors other uncontrolle 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 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 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 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 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