autosomal recessive nonsyndromic deafness 99

Term ID

DOID:0111634

Synonyms

• autosomal recessive deafness 99
• DFNB99

Definition

An autosomal recessive nonsyndromic deafness characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM132E gene on chromosome 17q12. https://www.ncbi.nlm.nih.gov/pubmed/12673573

References

• OMIM:618481

Ontology

Human Disease   ( DOID:0111634 )