3-methylglutaconic aciduria 5
An autosomal recessive disorder characterized by early-onset dilated cardiomyopathy, growth failure, cerebellar ataxia causing significant motor delays, testicular dysgenesis, growth failure and significant increases in urine organic acids, particularly 3-methylglutaconic acid and 3-methylglutaric acid.
Name | Development Level | Target Family |
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Name | Description |
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TCRDv4.6.9
UniProt Disease
UniProt Disease