Disease Directory

22q11.2 deletion syndrome is a congenital malformation disorder that affects multiple systems, including the heart, immune system, palate, and facial...

2p13.2 microdeletion syndrome is a rare genetic disorder caused by a small deletion on one copy of chromosome 2. People with this condition often expe...

2p21 microdeletion syndrome is a rare condition that is defined by a small deletion in the 2p21 region. People with this condition may have cystinuria...

2p21 microdeletion syndrome without cystinuria is a rare condition caused by a small deletion on one copy of chromosome 2. This deletion leads to a ra...

Information about the overview of this condition is currently limited for this condition. There is not enough detailed information available to provid...

2q23.1 microdeletion syndrome is a recently recognized genetic condition. People with this condition may have significant challenges with intellectual...

2q23.1 microduplication syndrome is a rare chromosomal condition caused by the duplication of part of the long arm of chromosome 2. This condition is...

2q24 microdeletion syndrome is a chromosomal condition where a small part of the long arm of chromosome 2 is missing. This deletion can lead to a wide...

2q31.1 microdeletion syndrome is a recognized condition that occurs when a small piece of chromosome 2 is missing. People with this syndrome often exp...

2q33.1 microdeletion syndrome is a rare condition caused by a small deletion on the long arm of chromosome 2. This genetic change can lead to a variet...

2q37 microdeletion syndrome is a genetic condition caused by a deletion in a specific region of chromosome 2 (band 2q37). This missing piece of the ch...

3-M syndrome is a primordial growth disorder marked by extremely low birth weight, reduced birth length, and severe postnatal growth restriction. Indi...

3-hydroxy-3-methylglutaric aciduria is an organic aciduria caused by a deficiency in the enzyme 3-hydroxy-3-methylglutaryl-CoA lyase. This enzyme play...

3-hydroxy-3-methylglutaryl-CoA synthase deficiency is a rare condition that affects the body's ability to make ketone bodies, which are an important s...

3-hydroxyacyl-CoA dehydrogenase deficiency is a rare metabolic condition that affects the body's ability to break down fats. Limited information is av...

3-hydroxyisobutyric aciduria is a rare metabolic disorder that affects the body's ability to process the amino acid valine. People with this condition...

3-hydroxyisobutyryl-CoA hydrolase deficiency is a rare condition that affects the brain and muscles. It is characterized by delayed motor development,...

3-methylcrotonyl-CoA carboxylase 1 deficiency is a rare genetic condition caused by changes in the MCCC1 gene. This condition affects the function of...

3-methylcrotonyl-CoA carboxylase 2 deficiency is a rare condition caused by a mutation in the MCCC2 gene. This condition is part of a group of metabol...

3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder that affects the body’s ability to break down leucine, an important amin...