1q21.1 microduplication syndrome is a rare genetic disorder caused by an extra copy of genetic material on the long arm of chromosome 1. It is characterized by a wide range of physical and developmental features, including intellectual disability,...

1q41q42 microdeletion syndrome is a rare genetic disorder caused by the deletion of a small piece of genetic material from the long arm of chromosome 1. It is characterized by a wide range of physical and developmental abnormalities, including int...

1q44 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the long arm of chromosome 1. It is characterized by intellectual disability, developmental delay, and a variety of physical features. Other feature...

2-Aminoadipic 2-oxoadipic aciduria is an inherited disorder caused by a deficiency of the enzyme 2-aminoadipic acid oxidase. This enzyme is responsible for breaking down the amino acid 2-aminoadipic acid, which is found in proteins. Without this e...

2-Methylbutyryl-CoA dehydrogenase deficiency is an inherited disorder that affects the body's ability to break down certain amino acids. It is caused by a deficiency in the enzyme 2-methylbutyryl-CoA dehydrogenase, which is responsible for breakin...

20p12.3 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the short arm of chromosome 20. It is characterized by a wide range of physical and developmental features, including intellectual disability, de...

20p13 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the short arm of chromosome 20. It is characterized by a wide range of physical and developmental abnormalities, including intellectual disability,...

20q11.2 microdeletion syndrome is a genetic disorder caused by the deletion of a small piece of chromosome 20. It is a rare disorder that can cause a wide range of physical and developmental problems, including heart defects, cleft palate, learnin...

20q11.2 microduplication syndrome is a rare genetic disorder caused by an extra copy of genetic material on the long arm (q) of chromosome 20. It is characterized by a wide range of physical and developmental features, including intellectual disab...

20q13.33 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the long arm of chromosome 20. It is characterized by a wide range of physical and developmental features, including intellectual disability, de...

21q22.11q22.12 microdeletion syndrome is a rare genetic disorder caused by the deletion of a small piece of genetic material from chromosome 21. It is characterized by a wide range of physical and developmental abnormalities, including intellectua...

22q11.2 deletion syndrome, also known as DiGeorge syndrome or velocardiofacial syndrome, is a genetic disorder caused by the deletion of a small piece of chromosome 22. It is the most common microdeletion syndrome, occurring in 1 in 4000 births. S...

22q11.2 duplication syndrome is a genetic disorder caused by an extra copy of a small piece of chromosome 22. It is also known as DiGeorge syndrome or velocardiofacial syndrome. Symptoms of this disorder can vary widely, but may include heart defe...

2p13.2 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the short arm of chromosome 2. It is characterized by intellectual disability, developmental delay, and a variety of physical features. Other feat...

2p15p16.1 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material from a specific region of chromosome 2. It is characterized by intellectual disability, developmental delay, and a variety of physical features. C...

2p21 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the short arm of chromosome 2. It is characterized by a wide range of physical and developmental abnormalities, including intellectual disability, d...