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sudden cardiac failure, infantile

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A disease characterized by sudden death within the first 2 years of life due to unexpected cardiac arrest. Some patients manifest hypertrophic cardiomyopathy, lipid accumulation in myocardium, degeneration of mitochondrial cristae, metabolic acidosis, and elevated plasma lactate levels. SCFI transmission pattern is consistent with autosomal recessive inheritance.
Mondo Term and Equivalent IDs
MONDO:0014973:  sudden cardiac failure, infantile
UMLS:C4310664: