/autosomal recessive nonsyndromic hearing loss 4

autosomal recessive nonsyndromic hearing loss 4

Rare Disease

MONDO:0010933

Also Known As

enlarged vestibular aqueductenlarged vestibular aqueduct, digenicDFNB4autosomal recessive deafness 4 with enlarged vestibular aqueductautosomal recessive nonsyndromic deafness 4autosomal recessive nonsyndromic deafness type 4deafness, autosomal recessive 4, with enlarged vestibular aqueductneurosensory nonsyndromic recessive deafness 4dilated vestibular aqueduct

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.