A doctor who specializes in the treatment and diagnosis of diseases of the gastrointestinal system (stomach, intestines and associated organs).

The fundamental physical and functional unit of heredity. A gene is an ordered sequence of nucleotides located in a particular position on a particular chromosome that encodes a specific functional product (i.e., a protein or RNA molecule).

Provides patients and their families with education and information about genetic-related conditions.

An organism in which different cells contain different genetic sequence. This can be the result of a mutation during development or fusion of embryos at an early developmental stage.

Testing a group of people to identify individuals at high risk of having or passing on a specific genetic disorder.

A test used to screen for genetic disorders, which involves direct examination of the DNA molecule itself. A positive result means the person being tested has a mutation in the gene that causes Barth syndrome (TAZ). A negative result means a mutation has not been found in the gene that causes Barth syndrome. A variant of unknown significance result means an unusual genetic sequence has been identified but it is not clear if that change is harmful or will result in the person developing symptoms of Barth syndrome.

The study of inheritance patterns of specific traits.

The genetic constitution/makeup of an organism, as distinguished from its physical appearance (its phenotype).

A colony-stimulating factor that stimulates the production of neutrophils. G-CSF is a cytokine that belongs to the family of drugs called hematopoietic (blood-forming) agents.

An autoimmune disease that most commonly affects the thyroid, frequently causing it to enlarge to twice its size or more (goiter), become overactive, with related hyperthyroid symptoms such as increased heartbeat, muscle weakness, disturbed sleep and irritability. It can also affect the eyes, causing bulging eyes (exophthalmos). It affects other systems of the body including the skin, heart, circulation and nervous system.

Constitutional growth delay (CGD) is a normal growth pattern for some children. It leads to slow growth and delayed puberty (the time when children's bodies begin to mature sexually). CGD becomes noticeable when the child's peers are in their time of rapid growth and sexual development.

A medical condition in which the body does not produce enough growth hormone..