Term Name: autosomal recessive nonsyndromic deafness 109
Synonyms: autosomal recessive deafness 109, DFNB109
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.
Ontology: Human Disease [DOID:0111639]   ( DOID:0111639 )

Relationships
is a type of: autosomal recessive nonsyndromic deafness