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...

2p21 microdeletion syndrome without cystinuria 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 fea...

2q23.1 microdeletion syndrome is a rare genetic disorder caused by the deletion of a small piece of chromosome 2. It is characterized by a wide range of physical and developmental features, including intellectual disability, delayed development, s...

2q23.1 microduplication syndrome is a rare genetic disorder caused by a small duplication of genetic material on the long arm of chromosome 2. It is characterized by a wide range of physical and developmental features, including intellectual disab...

2q24 microdeletion syndrome is a rare genetic disorder caused by a small deletion of genetic material on the long arm of chromosome 2. It is characterized by a wide range of physical and developmental features, including intellectual disability, d...

2q31.1 microdeletion syndrome is a rare genetic disorder caused by the deletion of a small piece of genetic material from a specific location on chromosome 2. It is characterized by a wide range of physical and developmental features, including in...

2q32q33 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the long arm of chromosome 2. It is characterized by intellectual disability, developmental delay, and a variety of physical features. Other feat...

2q37 microdeletion syndrome is a rare genetic disorder caused by a missing piece of genetic material on the long arm of chromosome 2. It is characterized by a wide range of physical and developmental features, including intellectual disability, de...

3-hydroxy-3-methylglutaric aciduria (3-HMG) is an inherited metabolic disorder caused by a deficiency of the enzyme 3-hydroxy-3-methylglutaryl-CoA lyase (HMGCL). This enzyme is responsible for breaking down certain amino acids and fatty acids in t...

3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare genetic disorder caused by a deficiency of the enzyme 3-hydroxy-3-methylglutaryl-CoA synthase. This enzyme is involved in the production of cholesterol and ...