autosomal recessive nonsyndromic deafness 109 (DOID:0111639)
Alliance: disease page
Synonyms: autosomal recessive deafness 109; DFNB109
Alt IDs: OMIM:618013
Definition: An autosomal recessive nonsyndromic deafness characterized by bilateral congenital severe to profound sensorineural hearing loss and vestibular dysplasia without balance or movement issues that has_material_basis_in homozygous or compound heterozygous mutation in the ESRP1 gene on chromosome 8q22.1.