3-methylglutaconic aciduria type 5
A 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.
MONDO:0016337
obsolete syndrome associated with dilated cardiomyopathy (obsolete MONDO:0016337)
excluded_subClassOf
MONDO:0017359
3-methylglutaconic aciduria
is_a
3 alpha methylglutaconic aciduria type V
related
3 methylglutaconic aciduria type V
related
3-METHYLGLUTACONIC aciduria, type V
related
3-methylglutaconic aciduria caused by mutation in DNAJC19
exact
3-methylglutaconic aciduria type 5
exact
3-methylglutaconic aciduria type V
exact
DCMA
exact
DCMA syndrome
exact
DNAJC19 3-methylglutaconic aciduria
exact
MGA 5
related
MGA V
related
MGA5
exact
MGCA5
exact
dilated cardiomyopathy with ataxia
exact
SPAC824.06