| Disease ID | Source | Name | Description |
| 500006 | OMIM | Cardiomyopathy, infantile hypertrophic (CMHI) | An infantile form of hypertrophic cardiomyopathy, a heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. |