Autosomal recessive nonsyndromic hearing loss 28
Autosomal recessive nonsyndromic hearing loss 28
Definition
An autosomal recessive disorder caused by mutations in the TRIOBP gene, encoding TRIO and F-actin-binding protein. The condition is characterized by severe to profound sensorineural hearing loss.
Also known as autosomal recessive nonsyndromic hearing loss 28 — per MONDO
Also identified as
- DOID 0110486 per MONDO
- MESH C565218 per MONDO
- NCIT C129023 per MONDO
- OMIM 609823 per MONDO
- UMLS C1853276 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Craniocervical region | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Craniocervical region | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Ear | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Ear | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |