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Zellweger syndrome
Healthline — Zellweger syndrome refers to an inherited condition that is present at birth and usually causes death during the first six to twelve months of age. This syndrome is caused by a lack or reduction of peroxisomes, which are specialized organelles ...More…
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XYY syndrome
Healthline — XYY syndrome is a chromosome disorder that affects males. Males with this disorder have an extra Y chromosome. The XYY syndrome was previously considered the super-male syndrome, in which men with this condition were thought to be overly ...More…
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XX Male Syndrome
Healthline — XX male syndrome occurs when the affected individual appears as a normal male, but has female chromosomes. Two types of XX male syndrome can occur: those with detectable SRY gene and those without detectable SRY (sex determining region Y). SRY is ...More…
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Xeroderma pigmentosum
Healthline — Xeroderma pigmentosum is a rare inherited genetic disease. People with this condition develop skin and eye cancers at young ages because their DNA is extremely susceptible to damage caused by ultraviolet radiation. Xeroderma (dry, scaly skin) and ...More…
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X-Linked Mental Retardation
Healthline — X-linked mental retardation (XLMR) broadly refers to a group of inherited disorders characterized by varying degrees of mental retardation, caused by mutations in various genes present on the X chromosome. Mental retardation is defined as the ...More…
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X-linked hydrocephaly
Healthline — Hydrocephaly refers to the accumulation of cerebrospinal fluid (CSF) in the fluid-filled cavities, called ventricles, that are located deep in the core of the brain. The designation X-linked indicates that this form of hydrocephaly results from a ...More…
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Wolman Disease
Healthline — Wolman disease is a rare inherited defect in the body's metabolism of fats (lipids). Wolman disease, also known as lysosomal acid lipase disease, is a lethal genetic disorder caused by the lack of the enzyme lysosomal acid lipase. Lysosomal acid ...More…
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Wolf-Hirschhorn syndrome
Healthline — Wolf-Hirschhorn syndrome (WHS) refers to a condition that is caused by a missing part (deletion) of the short arm of chromosome 4. This missing genetic material results in severe developmental retardation, a characteristic facial appearance, and ...More…
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Wiskott-Aldrich Syndrome
Healthline — WAS was named for the two physicians who first reported the disorder. In 1937, Dr. A. Wiskott, a physician working in Munich, described two affected boys of German ancestry who had repeated infections, a skin rash, and poor blood-clotting ...More…
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Wilson Disease
Healthline — Wilson disease (WD) is an inherited disorder of copper metabolism, transmitted as an autosomal recessive trait. This type of inheritance means unaffected parents who each carry the WD gene have a 25% risk in each pregnancy of having an affected ...More…
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Williams Syndrome
Healthline — Williams syndrome, first described in 1961, is a rare genetic condition with a wide array of clinical features. Typical facial features seen in children with Williams syndrome include a wide mouth with full lips, a small chin, and a short, ...More…