autosomal recessive nonsyndromic deafness 111

Term ID

DOID:0111640

Synonyms

• autosomal recessive deafness 111
• DFNB111

Definition

An autosomal recessive nonsyndromic deafness characterized by early-onset, moderate to severe sensorineural hearing loss with no vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the MPZL2 gene on chromosome 11q23.33. (2)

References

• OMIM:618145

Ontology

Human Disease   ( DOID:0111640 )