Disease Directory

49, XXXYY syndrome is a rare chromosomal condition that occurs when a male inherits two extra copies of the X chromosome and one extra copy of the Y c...

49,XYYYY syndrome is a rare genetic condition caused by an abnormal count of Y chromosomes. People with this syndrome usually experience moderate to s...

4p16.3 microduplication syndrome is a rare genetic condition caused by a partial duplication of the short arm of chromosome 4. People with this condit...

4q25 proximal deletion syndrome is a rare condition where a part of chromosome 4, specifically in the q25 region, is missing. Because the deletion is...

5-fluorouracil poisoning is a rare condition that occurs due to the prolonged, low-dose use of 5-fluorouracil, a drug commonly used in chemotherapy fo...

5-nucleotidase syndrome is a rare disease. Detailed information about this condition is currently limited in medical literature.

5-oxoprolinase deficiency is a rare condition that affects the body’s ability to process a chemical called 5-oxoproline. This condition is described a...

5q14.3 microdeletion syndrome is a rare condition that results from a small deletion in the 5q14.3 region of one chromosome. It has been described in...

5q35 microduplication syndrome is a newly described rare genetic condition. It is characterized by features such as microcephaly (a smaller than usual...

Information about the overall condition is currently limited for this condition. Further detailed descriptions are not available at this time.

6p22 microdeletion syndrome is a recently identified condition. It is associated with a variable clinical phenotype that may include developmental del...

6q terminal deletion syndrome is a rare condition characterized by a distinct facial appearance, including specific facial dysmorphism, as well as a s...

6q16 deletion syndrome, also known as Del(6)(q16), Prader-Willi-like syndrome due to deletion 6q16, or monosomy 6q16, is a condition where a small par...

Information about overview is currently limited for this condition. There is not enough detailed public information about the characteristics or defin...

7p22.1 microduplication syndrome is a rare condition that happens because of a small extra copy of part of the short arm of chromosome 7. This extra g...

7q11.23 microduplication syndrome is a chromosomal copy-number condition caused by an extra segment on the long arm of chromosome 7. The duplication a...

Information about the overview is currently limited for this condition.

8p inverted duplication/deletion syndrome is a rare chromosomal anomaly. It is characterized by a combination of mild to severe intellectual deficits...

8p11.2 deletion syndrome is a condition caused by missing pieces of genetic material from a small part of chromosome 8. This syndrome is known as a co...

8p23.1 duplication syndrome is a rare chromosomal condition caused by a partial duplication of the short arm of chromosome 8. People with this conditi...