eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | cardiomyopathy |
| Symptom | C0011053|deafness |
| Sentences | 1 |
| PubMedID- 24800237 | Described for the first time a human model of leopard syndrome (an acronym formed from its main features, that is, lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary valve stenosis, abnormal genitalia, retardation of growth and deafness), with life-threatening hypertrophic cardiomyopathy as one of major disease phenotype characteristics . |
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