Autosomal recessive nonsyndromic hearing loss 49
Autosomal recessive nonsyndromic hearing loss 49
Definition
An autosomal recessive disorder caused by mutations in the MARVELD2 gene, encoding MARVEL domain-containing protein 2. The condition is characterized by profound prelingual deafness.
Also known as autosomal recessive nonsyndromic hearing loss 49 — per MONDO
Also identified as
- DOID 0110506 per MONDO
- MESH C565717 per MONDO
- NCIT C129024 per MONDO
- OMIM 610153 per MONDO
- UMLS C1857811 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 |