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DefinitionXq21 deletion syndrome is a very rare genetic condition where a small missing piece (deletion) on the long arm of the X chromosome, in a region...
DefinitionXq21 microdeletion syndrome happens when a very small piece is missing from the long arm of the X chromosome, in a region called “Xq21.” This missing...
DefinitionThe XXYY genotype is a rare genetic condition that affects a person’s sex chromosomes. In this article, we’ll explore what XXYY genotype is, its various types,...
DefinitionYaws and parangi are infectious diseases caused by a bacterium called Treponema pallidum. They primarily affect the skin, bones, and joints, and understanding their definitions, causes,...
DefinitionYoshimura–Takeshita syndrome is an extremely rare genetic condition that was first described in children and is also listed as central nervous system calcification–deafness–tubular acidosis–anemia? syndrome. It...
DefinitionYoung–Simpson syndrome (often grouped under the KAT6B-related disorders) is a rare genetic condition present from birth. It affects how the face, brain, skeleton, thyroid? gland, heart,...
DefinitionZellweger syndrome (ZS) is a rare, inherited disorder that affects the body’s ability to build and maintain peroxisomes—tiny structures within cells that break down certain fats...
DefinitionZellweger-like contiguous gene deletion syndrome is a very rare, inherited condition that affects newborns and young infants. It happens when a small stretch of DNA is...
DefinitionZeta-associated-protein 70 deficiency (often called ZAP-70 deficiency) is a rare, inherited problem of the immune system. It mainly affects T cells, which are white blood cells...
DefinitionZimmermann–Laband syndrome (ZLS) is a rare genetic disorder that can affect various parts of the body. In this article, we’ll provide a simple and clear explanation...
DefinitionZiprkowski–Margolis syndrome is an extremely rare inherited condition. It causes congenital? (from birth) sensorineural hearing loss and patchy skin depigmentation that looks like piebaldism (large, sharply...
