by CheckRare Staff | Jul 25, 2017
Other Names: Deletion 5q; Monosomy 5q; 5q deletion Chromosome 5q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 5. The severity of the condition and the signs and symptoms...
by CheckRare Staff | May 7, 2017
Ring Chromosome 20 syndrome is a rare human chromosome abnormality where the two arms of chromosome 20 fuse to form a ring chromosome. The syndrome is associated with epileptic seizures, behaviour disorders and mental retardation. When not all cells contain a ring...
by CheckRare Staff | May 6, 2017
Ollier Disease is a rare nonhereditary sporadic disorder where intraosseous benign cartilaginous tumors (enchondroma) develop close to growth plate cartilage. Prevalence is about 1 in 100,000 people. The disease typically consists of multiple enchondromas which...
by CheckRare Staff | May 4, 2017
Jacobsen Syndrome is a rare congenital disorder resulting from deletion of a terminal region of chromosome 11 that includes band 11q24.1. It can cause intellectual disabilities, a distinctive facial appearance, and a variety of physical problems including heart...
by CheckRare Staff | May 3, 2017
Fabry disease is an inherited disorder that results from the buildup of a particular type of fat in the body’s cells, called globotriaosylceramide or GL-3. The disorder affects many parts of the body. Signs and symptoms may include episodes of pain, particularly...
