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3-methylglutaconic aciduria type 5
rareA syndrome characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.
- Identifiers
- MONDO:0012435 OMIM:610198Orphanet:66634
- Causal genes
- DNAJC19
- Part of
- 3-methylglutaconic aciduria
- Also known as
- 3 alpha methylglutaconic aciduria type V · 3 methylglutaconic aciduria type V · 3-methylglutaconic aciduria caused by mutation in DNAJC19 · 3-methylglutaconic aciduria type V · 3-METHYLGLUTACONIC aciduria, type V
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