Neurology · Pediatrics / Metabolic disease; Neurology overlap
Barth syndrome with neurological involvement
also: Barth syndrome
X-linked mitochondrial disorder with cardiomyopathy, neutropenia and myopathy.
- Specialty
- Neurology
- Subspecialty
- Pediatrics / Metabolic disease; Neurology overlap
- Sex & age distribution
- Male: affected, nearly all patients; Female: carriers usually unaffected; Children: yes, infancy
- Gene(s) involved
- TAFAZZIN
- Alternative names & eponyms
- Barth syndrome
- Note
- Primarily not neurologic; verify
Etiology & mechanism
Tafazzin deficiency alters cardiolipin.
Gene(s) involved (1)
Symptoms & signs (5)
In plain terms, someone with Barth syndrome with neurological involvement may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
3 shared
Barth syndrome
growth delay, neutropenia, skeletal myopathy
1 shared
Churg–Strauss syndrome
cardiomyopathy
1 shared
Cohen syndrome
neutropenia
1 shared
Felty syndrome
neutropenia
1 shared
Hunter syndrome
cardiomyopathy
1 shared
Hurler syndrome
cardiomyopathy
1 shared
Hyper-IgM syndrome
neutropenia
1 shared
Immunodeficiency with hyper IgM syndrome
neutropenia
1 shared
McLeod syndrome
cardiomyopathy
1 shared
Shwachman–Diamond syndrome
neutropenia
Shares genes with
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