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Gaucher’s disease or Gaucher disease (GD) is a genetic disease where glucocerebroside (a sphingolipid, also called glucosylceramide) accumulates in cells and specific organs. The disease is characterized by swelling, tiredness,…
Glycogen storage disease type II, also referred to as Pompe disease, is an autosomal recessive metabolic disease which damage nerve and muscle cells in the body. It’s caused an accumulation…
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DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by the deletion of a small segment of chromosome 22. While the symptoms may be variable they frequently…
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Noonan syndrome (NS) is a relatively common autosomal dominant congenital illness and is named after Jacqueline Noonan, a pediatric cardiologist. It’s known as the male version of Turner’s syndrome nonetheless,…
Pfeiffer syndrome is a really uncommon genetic illness characterized by the premature fusion of certain bones of the skull that affect the shape of the face and head. Additionally, the…
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