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.
MONDO:0019588
hearing loss, autosomal recessive
is_a
DFNB4
narrow
autosomal recessive deafness 4 with enlarged vestibular aqueduct
narrow
autosomal recessive nonsyndromic deafness 4
narrow
autosomal recessive nonsyndromic deafness type 4
narrow
deafness, autosomal recessive 4, with enlarged vestibular aqueduct
narrow
enlarged vestibular aqueduct
exact
enlarged vestibular aqueduct, digenic
exact
neurosensory nonsyndromic recessive deafness 4
narrow
SPBC3H7.02 SPCC320.05 SPAC869.05c