Search Results 41-50 of 23218 for Genetic+disorder
This rare genetic disorder causes fatty substances (sulfatides) to build up in your brain and nervous system, causing progressive loss of nerve function.
Tuberous sclerosis is a genetic disorder caused by gene changes — sometimes called mutations — in either the TSC1 or the TSC2 gene. These genes are thought ...
To have an autosomal recessive disorder, you inherit two changed genes, sometimes called mutations. ... http://www.geneticdiseasefoundation.org/genetic-diseases/ ...
What types of genetic testing does Mayo Clinic offer? · Predictive testing · Rare disease testing · Drug-gene testing · Cancer treatment testing.
Some people with a gene change that causes porphyria never have any symptoms. Acute porphyrias. Acute porphyrias include forms of the disease that usually cause ...
Causes. Niemann-Pick disease is caused by changes in specific genes related to how the body breaks down and uses fats. These fats include cholesterol and lipids ...
They're caused by different gene changes. The two types of PKD are: Autosomal dominant polycystic kidney disease (ADPKD). This is the most common type of ...
"The gene can now be included in genetic testing for people suspected of having a neurodevelopmental disorder, which may end the diagnostic odyssey these people ...
There are many causes of ataxia, including genetic and degenerative conditions. Ataxia also may be caused by an infection or another treatable condition. Chorea ...
Most dwarfism-related conditions are genetic disorders, but the causes of some disorders are unknown. ... gene associated with the disorder and one normal copy of ...
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