Term Name: | autosomal recessive nonsyndromic deafness 109 |
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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 ) |