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Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… behavioral, and/or psychiatric disorders including autism, attention deficit disorder, obsessive compulsive disorder, anxiety disorders, …
Genetic Disorders
Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems.
… of the altered (mutated) gene in each cell will cause the disorder. Usually a person who has myotonic dystrophy also … gene is passed down from one generation to the next. The disorder may begin earlier in life and signs and symptoms …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
… serves to reassure parents of affected children that their disorder stems from a sporadic genetic mutation and that …
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… Affected boys may have behavioral problems such as hyperactivity, hand flapping, hand biting, temper tantrums … is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex … most cases, males experience more severe symptoms of the disorder than females. A striking characteristic of X-linked …
Genetic Disorders
Familial hypercholesterolemia is an inherited condition causing increased low density lipoprotein cholesterol at birth and heart attacks at an early age.
… in their 40's to 50's, and 85 percent of men with the disorder have a heart attack by age 60. Women who have …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
Genetic Disorders
Dercum disease is a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-menopausal, obese women of middle age.
… have suggested that Dercum disease is an autoimmune disorder (a condition that occurs when the body's immune …
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… SCID, commonly called ADA SCID, is a very rare genetic disorder. It is caused by a mutation in the gene that encodes …
Genetic Disorders
Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility.