Barth Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** A rare X-linked syndrome caused by mutations in TAZ1 gene. Signs and symptoms include cardiomyopathy, neutropenia, muscle weakness and atrophy, growth delay, cardiolipin deficiency and 3-methylglutaconic aciduria.

**Synonyms:** - 3-Methylglutaconic Aciduria Type 2 - 3-Methylglutaconic Aciduria Type 2