Disease association ontology term - MONDO:0010933 - autosomal recessive nonsyndromic hearing loss 4
Term summary
- ID
- MONDO:0010933
- Name
- autosomal recessive nonsyndromic hearing loss 4
- Ontology or CV name
- Disease association
- Definition
- An 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.
