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Autosomal recessive nonsyndromic hearing loss 4
rareAn autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22. Mutation in the FOXI1 gene has been found to be a rare cause of EVA. EVA may also be rarely caused by digenic inheritance of heterozygous mutations in the SLC26A4 and FOXI1 genes, or in the SLC26A4 and KCNJ10 genes.
- Identifiers
- MONDO:0010933 OMIM:600791
- Also known as
- enlarged vestibular aqueduct · enlarged vestibular aqueduct, digenic
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