3-M syndrome is a disorder that causes skeletal abnormalities including short stature (dwarfism) and unusual facial features. The name of this condition comes from the initials of three researchers who first identified it: Miller, McKusick, and Malva READ MORE

3-methylcrotonyl-CoA carboxylase deficiency (also called MCC deficiency) is an inherited disorder in which the body is unable to process certain proteins. People with this disorder have a shortage of an enzyme that helps break down proteins that cont READ MORE

3-methylglutaconyl-CoA hydratase deficiency is an inherited condition that causes neurological problems. Beginning in infancy to early childhood, children with this condition often have delayed development of mental and motor skills (psychomotor dela READ MORE

3MC syndrome is a disorder characterized by unusual facial features and problems affecting other tissues and organs. The distinctive facial features of people with 3MC syndrome include widely spaced eyes (hypertelorism), a narrowing of the eye openin READ MORE

3p deletion syndrome is a condition that results from a chromosomal change in which a small piece of chromosome 3 is deleted in each cell. The deletion occurs at the end of the short (p) arm of the chromosome. This chromosomal change often leads to i READ MORE

3q29 microdeletion syndrome (also known as 3q29 deletion syndrome) is a condition that results from the deletion of a small piece of chromosome 3 in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q29. Th READ MORE

3q29 microduplication syndrome (also known as 3q29 duplication syndrome) is a condition that results from the copying (duplication) of a small piece of chromosome 3 in each cell. The duplication occurs on the long (q) arm of the chromosome at a posit READ MORE

46,XX testicular difference of sex development is a condition in which individuals with two X chromosomes in each cell, the pattern typically found in females, have a male appearance. People with this condition have male external genitalia. They gene READ MORE

47,XYY syndrome is characterized by an extra copy of the Y chromosome in each of an individual's cells. Although many people with this condition are taller than average, the chromosomal change sometimes causes no unusual physical features. Most indiv READ MORE

48,XXXY syndrome is a chromosomal condition in boys and men that causes intellectual disability, developmental delays, physical differences, and an inability to father biological children (infertility). Its signs and symptoms vary among affected indi READ MORE

48,XXYY syndrome is a chromosomal condition that affects male development. There is a lot of variability in symptoms between people with 48,XXYY syndrome. Almost all affected individuals have developmental delays in infancy and develop decreased test READ MORE

49,XXXXY syndrome is a chromosomal condition that causes intellectual disabilities, developmental delays, changes in sex characteristics and other physical features, and an inability to have biological children (infertility). Some of these signs and READ MORE