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Below are the most recent content updates.
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1) is a recessive condition caused by changes to a gene called VLDLR. Learn more.
Glycogen storage disease type 1a (GSD1a) is a genetic condition where the body cannot get energy from glycogen stored in the liver. Learn more.
Distal hereditary motor neuropathy, type V (DHMN5) is a progressive genetic condition that affects the nerves in the spinal cord. Learn more.
Hypophosphatasia is a rare inherited disorder that causes poor bone and teeth development. Learn more.
NEW: Tyrosinemia Type II
Tyrosinemia type II is a genetic disease that happens when a person’s body does not have the enzyme tyrosine aminotransferase (TAT). Learn more.
Cytomegalovirus, or CMV, is a common virus that can affect people of all ages. Most people infected with CMV will never have any symptoms. Learn more.
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a problem breaking down a type of body fat in order to make energy. Learn more.
[Batch Update 2016-08-23]