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- ... LAMP2 gene have been found to cause Danon disease. Danon disease is a condition characterized by weakening of the heart muscle (cardiomyopathy), ... disabilities. The LAMP2 gene variants that cause Danon disease lead to the production of very little or ...
- ... information about Alopecia areata More About This Health Condition Certain variations in the HLA-DRB1 gene have ... of developing an autoimmune disorder called autoimmune Addison disease. Autoimmune disorders occur when the immune system malfunctions ...
- ... provides information about Coloboma More About This Health Condition Variants (also called mutations) in the GJA1 gene ... the autosomal recessive form of craniometaphyseal dysplasia. This condition is characterized by a thickening of the bones ...
- ... Variations in the SNCA gene appear to affect disease risk in people of European descent; however, studies ... gene variations are a risk factor for this condition in people of other geographic and ethnic backgrounds. ...
- ... may reduce the risk of developing Parkinson's disease, a condition characterized by progressive problems with movement and balance. ... S18Y polymorphism may help protect against Parkinson's disease, particularly in young adults. However, other studies have ...
- ... Several mutations have been found to cause the condition; these genetic changes alter single protein building blocks ( ... resulting in atrial fibrillation. More About This Health Condition More than 30 KCNQ1 gene mutations have been ...
- ... PRNP gene has been found to cause a condition called Huntington's disease-like 1 (HDL1). The signs and symptoms of HDL1 resemble those of a more common condition called Huntington's disease.These signs and symptoms ...
- ... in the ATP7A gene are responsible for a condition called occipital horn syndrome or X-linked cutis ... of occipital horn syndrome. More About This Health Condition Researchers have identified more than 150 mutations in ...
- ... identified in people with androgen insensitivity syndrome, a condition that affects sexual development before birth and during ... or mild androgen insensitivity syndrome.People with this condition have one X chromosome and one Y chromosome ...
- ... in each cell causes MECP2 duplication syndrome, a condition characterized by intellectual disability, delayed development, and seizures. This condition affects males more often than females. When females ...
