Mondo Description Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CABP2 gene.

Uniprot Description A form of non-syndromic deafness characterized by stable, bilateral, symmetric, prelingual moderate to severe deafness. Hearing impairment is slightly more pronounced in the mid-frequencies, resulting in a distinctive shallow U-shaped audiogram.

Disease Ontology Description An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CABP2 gene on chromosome 11q13.