Mosaic trisomy 20 syndrome happens when some of the body’s cells have an extra copy of chromosome 20, but other cells have the normal number of chromosomes. In ...

Complete trisomy 20 syndrome is a genetic condition where a person has three copies of chromosome 20 instead of the usual two copies. Chromosomes are tiny ...

Patau’s syndrome, also called trisomy 13, is a genetic problem that starts when a baby is still a tiny group of cells. In this condition there are three copies ...

Complete trisomy 13 syndrome (also called Patau syndrome) is a genetic condition where every cell in the baby’s body has three copies of chromosome 13 instead ...

Complete endocardial cushion defect is a birth heart problem in which there is a big hole in the center of the heart and only one large valve instead of two ...

Complete atrioventricular septal defect with atrial and ventricular components (complete AVSD) is a birth heart problem where there is one large hole in the ...

Complete atrioventricular septal defect (complete AVSD) is a serious heart problem that a baby is born with. In this problem, there is a big hole in the ...

Complete atrioventricular canal defect is a serious heart problem that a baby is born with. In this condition there is one large hole in the middle of the ...

Atrioventricular canal–type ventricular septal defect is a special kind of hole in the wall between the two lower chambers of the heart (the ventricles) that ...

Complete atrioventricular canal is a serious heart problem that a baby is born with. In this condition there is a big hole in the center of the heart where the ...

Complete androgen resistance syndrome means the body cannot “hear” or use male sex hormones (androgens) at all, even though these hormones are present in ...

Complete androgen insensitivity syndrome (CAIS) is a rare condition where a person has XY (male) chromosomes and testicles, but the body cannot “hear” or use ...

Complement receptor deficiency is a rare health problem where the body does not have enough working “complement receptors” on its immune cells, or these ...

Complement component deficiency is a health problem where one or more proteins of the “complement system” are missing or do not work properly. The complement ...

Complement deficiency caused by mutation in C5 (also called complement component 5 deficiency or C5 deficiency) is a rare problem of the immune system. In this ...

Complement component 5 deficiency (often shortened to C5 deficiency or C5D) is a rare problem of the immune system where the body does not have enough working ...

Classic complement early component deficiency caused by mutation in C3 means that an important immune protein, called complement component 3 or C3, is missing ...

C3 complement deficiency means that the blood has very low or almost no working C3 protein, which is one of the main “helper” proteins in the immune system’s ...

Complement component 3 (C3) deficiency is a health problem where the blood has very low or almost no C3 protein, which is a key part of the complement system ...

Complement deficiency caused by mutation in C2 means that a small change (mutation) in the C2 gene stops the body from making enough working C2 protein, which ...