| Metadata | |
|---|---|
| ID | DOID:0111634 |
| Name | autosomal recessive nonsyndromic deafness 99 |
| 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 |
| Xrefs | |
| Synonyms |
autosomal recessive deafness 99 [EXACT] DFNB99 [EXACT] |
| Parent Relationships |