46,XY ovotesticular disorder of sex development (46,XY DSD) is a rare condition in which an individual has both ovarian and testicular tissue. This condition is also known as ovotesticular disorder of sex development, true hermaphroditism, or 46,X...

47,XYY syndrome is a chromosomal disorder that occurs when a male has an extra Y chromosome. It is a rare condition, occurring in only 1 in 1,000 live male births. Symptoms may include tall stature, learning disabilities, and behavioral problems....

48,XXXY syndrome is a rare chromosomal disorder caused by the presence of an extra X chromosome in each of a male's cells. It is also known as triplo-X syndrome or trisomy X. Symptoms of 48,XXXY syndrome can include delayed physical and mental dev...

48,XXYY syndrome is a rare genetic disorder caused by the presence of an extra copy of both sex chromosomes in each of a male's cells (48,XXYY). It is characterized by tall stature, learning disabilities, and infertility. Symptoms may also include...

48,XYYY syndrome is a rare chromosomal disorder caused by the presence of an extra Y chromosome in each of a male's cells. It is also known as Jacobs syndrome, XYY karyotype, or YY syndrome. Symptoms of 48,XYYY syndrome may include tall stature, l...

49,XXXXY syndrome is a rare chromosomal disorder caused by the presence of an extra X chromosome in each of a male's cells. It is a form of XYY syndrome, which is caused by the presence of an extra Y chromosome in each of a male's cells. Symptoms ...

49,XXXYY syndrome is a rare chromosomal disorder caused by the presence of an extra X and Y chromosome. It is a form of sex chromosome aneuploidy, which means that the individual has an abnormal number of sex chromosomes. Symptoms of this disorder...

49,XYYYY syndrome is a rare chromosomal disorder caused by the presence of an extra Y chromosome in each of a male's cells. It is a form of sex chromosome aneuploidy, and is typically characterized by tall stature, learning disabilities, and behav...

4H leukodystrophy is a rare genetic disorder that affects the central nervous system. It is caused by a mutation in the POLR3A gene, which is responsible for the production of a protein called 4H leukodystrophy protein. Symptoms of 4H leukodystrop...

4p16.3 microduplication syndrome is a rare genetic disorder caused by a small duplication of genetic material on the short arm of chromosome 4. It is characterized by a wide range of physical and developmental features, including intellectual disa...

4q21 microdeletion syndrome is a rare genetic disorder caused by the deletion of a small piece of genetic material from a specific region of chromosome 4. It is characterized by a wide range of physical and developmental abnormalities, including i...

4q25 proximal deletion syndrome is a rare genetic disorder caused by a deletion of genetic material from a specific region of chromosome 4. It is characterized by intellectual disability, developmental delays, and physical abnormalities. Other sym...

5-Fluorouracil (5-FU) poisoning is a type of poisoning caused by an overdose of the chemotherapy drug 5-fluorouracil. Symptoms of 5-FU poisoning can include nausea, vomiting, abdominal pain, confusion, and seizures. In severe cases, 5-FU poisoning...

5-oxoprolinase deficiency is a rare genetic disorder caused by a deficiency of the enzyme 5-oxoprolinase. This enzyme is responsible for breaking down the amino acid glutamate, which is found in many foods. People with this disorder are unable to ...

5p13 microduplication syndrome is a rare genetic disorder caused by a small duplication of genetic material on the short arm of chromosome 5. It is characterized by a variety of physical and developmental features, including intellectual disabilit...

5q14.3 microdeletion syndrome is a rare genetic disorder caused by a deletion of a small piece of genetic material on the long arm of chromosome 5. It is characterized by intellectual disability, developmental delays, and physical abnormalities. S...