Disease ID | Source | Name | Description |
617222 | OMIM | Sudden cardiac failure, infantile (SCFI) | 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. The disease is caused by variants affecting the gene represented in this entry. |
617223 | OMIM | Sudden cardiac failure, alcohol-induced (SCFAI) | An autosomal recessive disease characterized by sudden death due to unexpected cardiac arrest following ingestion of small amounts of alcohol. The disease is caused by variants affecting the gene represented in this entry. |