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Genetic Conditions
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Genetic Conditions

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1.305 ARTICLES IN THIS TOPIC

Stargardt macular degeneration

Stargardt macular degeneration is a genetic eye disorder that causes progressive vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, Stargardt macular degeneration affect
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Steatocystoma multiplex

Steatocystoma multiplex is a skin disorder characterized by the development of multiple noncancerous (benign) cysts known as steatocystomas. These growths begin in the skin's sebaceous glands, which normally produce an oily substance called sebum tha
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Stevens-Johnson syndrome/toxic epidermal necrolysis

Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is a severe skin reaction most often triggered by particular medications. Although Stevens-Johnson syndrome and toxic epidermal necrolysis were once thought to be separate conditions, they
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Stickler syndrome

Stickler syndrome is a group of hereditary conditions that are characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals, even among members
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STING-associated vasculopathy with onset in infancy

STING-associated vasculopathy with onset in infancy (SAVI) is a disorder involving abnormal inflammation throughout the body, especially in the skin, blood vessels, and lungs. Inflammation normally occurs when the immune system sends signaling molecu
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Stormorken syndrome

Stormorken syndrome is a rare condition that affects many body systems. Affected individuals usually have thrombocytopenia, in which there are abnormally low numbers of blood cells called platelets. Platelets are involved in normal blood clotting; a
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Sturge-Weber syndrome

Sturge-Weber syndrome is a condition that affects the development of certain blood vessels, causing abnormalities in the brain, skin, and eyes from birth. Sturge-Weber syndrome has three major features: a red or pink birthmark called a port-wine birt
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Stüve-Wiedemann syndrome

Stüve-Wiedemann syndrome is a severe condition characterized by bone abnormalities and dysfunction of the autonomic nervous system, which controls involuntary body processes such as the regulation of breathing rate and body temperature. The condition
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STXBP1 encephalopathy

STXBP1 encephalopathy is a condition characterized by abnormal brain function (encephalopathy) and intellectual disability. Most affected individuals also have recurrent seizures (epilepsy). The signs and symptoms of this condition typically begin in
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Subcortical band heterotopia

Subcortical band heterotopia is a condition in which nerve cells (neurons) do not move (migrate) to their proper locations in the fetal brain during early development. (Heterotopia means "out of place.") Normally, the neurons that make up the outer s
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Succinic semialdehyde dehydrogenase deficiency

Succinic semialdehyde dehydrogenase deficiency is a disorder that can cause a variety of neurological problems. People with this condition typically have developmental delays, especially in speech development; intellectual disabilities; and decreased
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Succinyl-CoA:3-ketoacid CoA transferase deficiency

Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is an inherited disorder that impairs the body's ability to break down ketones, which are molecules produced in the liver during the breakdown of fats. The signs and symptoms of SCOT deficienc
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