Autosomal recessive nonsyndromic hearing loss 4
Autosomal recessive nonsyndromic hearing loss 4
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.
Also known as enlarged vestibular aqueduct, enlarged vestibular aqueduct, digenic — per MONDO