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Weekly Site Update for 08/29/2016

August 29, 2016 thinkgenetic Leave a Comment

ThinkGenetic strives to create, update and review content regularly to ensure the information we provide is accurate, referenced and available 24/7 to our audience. If you wish to see your disease or disorder added or modified please contact us.

Below are the most recent content updates.

ThinkGenetic FaviconNEW: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1

Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1) is a recessive condition caused by changes to a gene called VLDLR. Learn more.

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NEW: Glycogen storage disease 1a

Glycogen storage disease type 1a (GSD1a) is a genetic condition where the body cannot get energy from glycogen stored in the liver. Learn more.

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NEW: Distal hereditary motor neuropathy, type V

Distal hereditary motor neuropathy, type V (DHMN5) is a progressive genetic condition that affects the nerves in the spinal cord. Learn more.

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NEW: Hypophosphatasia

Hypophosphatasia is a rare inherited disorder that causes poor bone and teeth development. Learn more.

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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.

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NEW: Fetal cytomegalovirus syndrome

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.

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NEW: Long-chain 3-hydroxyacyl-coa dehydrogenase deficiency

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]

Filed Under: Updates Tagged With: 22q11.2, 22q11.2 deletion syndrome, CAMRQ1, Cerebellar ataxia, CMV, Cytomegalovirus, DHMN5, Distal hereditary motor neuropathy, dysequilibrium syndrome, Fetal cytomegalovirus, glycogen storage disease, GSD1a, Hypophosphatasia, LCHADD, Long-chain 3-hydroxyacyl-coa dehydrogenase deficiency, mental retardation, TAT, Tyrosinemia, VLDLR

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