eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | waardenburg syndrome |
| Symptom | C1384666|hearing loss |
| Sentences | 4 |
| PubMedID- 20844723 | Curious differences in the colour of the iris (heterochromia) are found normally in the population, but may be inherited (figure 12) as autosomal dominant, and more rarely in syndromic forms such as waardenburg syndrome with underlying hearing loss and a white forelock being characteristic. |
| PubMedID- 26152551 | Congenital stapes malformation: rare conductive hearing loss in a patient with waardenburg syndrome. |
| PubMedID- 26185573 | hearing loss associated with waardenburg syndrome is usually of congenital sensorineural type with about 40% of cases displaying progressive hearing loss. |
| PubMedID- 19948261 | In humans, heterozygous mutations of the gene cause waardenburg syndrome, with symptoms including hearing loss and pigmentation abnormalities . |
Page: 1