autosomal recessive nonsyndromic hearing loss 49
Findings
No curated finding names autosomal recessive nonsyndromic hearing loss 49 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0012420), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Prelingual sensorineural hearing impairmentHPOHP:0000399
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MARVELD2HGNC:26401
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of