ORPHA:111

Barth syndrome

Also called 3-methylglutaconic aciduria type 2, BTHS, Cardioskeletal myopathy with neutropenia and abnormal mitochondria, Cardioskeletal myopathy-neutropenia syndrome, MGA2, X-linked cardioskeletal myopathy and neutropenia

Body system

Immunological diseases

Inheritance pattern

X-linked recessive

Typical age of onset

Antenatal, Childhood, Infancy, Neonatal

Estimated prevalence

1-9 / 1 000 000 (Europe)

Rarity class

1-9 / 1 000 000

ORPHA:111 is classified under "Immunological diseases" in the Orphanet nomenclature.