Autosomal recessive nonsyndromic hearing loss 4

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, DFNB4, autosomal recessive deafness 4 with enlarged vestibular aqueduct, autosomal recessive nonsyndromic deafness 4, autosomal recessive nonsyndromic deafness type 4, deafness, autosomal recessive 4, with enlarged vestibular aqueduct, neurosensory nonsyndromic recessive deafness 4

0 clinical trials for this condition and its sub-types, 0 tagged with Autosomal recessive nonsyndromic hearing loss 4 itself.