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 ...
Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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 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 ...
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 ...
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 ...
Complement component 2 deficiency (often called “C2 deficiency”) is a problem in the immune system. In this condition, the body does not have enough working ...
Compartment syndrome is a serious problem that happens when pressure inside a closed space in the body (a “compartment”) becomes too high. Muscles, nerves, and ...
Sporadic hypogammaglobulinemia is a health problem where the body has low levels of protective proteins called immunoglobulins (antibodies), even though there ...
Common variable agammaglobulinemia is usually used to describe common variable immunodeficiency (CVID) – a primary immune system disease where the body makes ...
Common variable immunodeficiency (usually called CVID) is a long-term problem of the immune system. In CVID, the body does not make enough protective proteins ...
