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 ...

3-hydroxyisobutyric aciduria is an inherited metabolic disorder caused by a deficiency of the enzyme 3-hydroxyisobutyryl-CoA hydrolase. This enzyme is responsible for breaking down 3-hydroxyisobutyric acid, a byproduct of the metabolism of certain...

3-Methylcrotonyl-CoA carboxylase deficiency is an inherited disorder that affects the body's ability to break down certain proteins. It is caused by a deficiency of the enzyme 3-methylcrotonyl-CoA carboxylase, which is responsible for the breakdow...

3-Methylglutaconic aciduria type 1 (3-MGA type 1) is an inherited metabolic disorder caused by a deficiency of the enzyme 3-methylglutaconyl-CoA hydratase. This enzyme is involved in the breakdown of certain fatty acids and amino acids. People wit...

3-Methylglutaconic aciduria type 3 is a rare inherited metabolic disorder caused by a deficiency of the enzyme 3-methylglutaconyl-CoA hydratase. This enzyme is involved in the breakdown of certain fatty acids and amino acids. People with this diso...

3-Methylglutaconic aciduria type 4 is a rare inherited metabolic disorder caused by a deficiency of the enzyme 3-methylglutaconyl-CoA hydratase. This enzyme is involved in the breakdown of certain fatty acids and amino acids. People with this diso...