eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | nonsyndromic deafness |
| Comorbidity | C1863752|enlarged vestibular aqueduct |
| Sentences | 2 |
| PubMedID- 24599119 | Mutations in slc26a4 cause a broad phenotypic spectrum, from typical pendred syndrome to nonsyndromic hearing loss associated with enlarged vestibular aqueduct. |
| PubMedID- 23705809 | Background: pendred syndrome (ps) and nonsyndromic hearing loss associated with enlarged vestibular aqueduct (eva) are caused by slc26a4 mutations. |
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