MRPL49
HGNC:1176 · SaudiVarKB evidence summary derived from retained literature mentions.
2Gene mentions
2Publications
0Linked variants
2Associated phenotypes
Associated phenotypes
Co-mentioned in MRPL49 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| hearing loss | HP:0000365 | 2 | 2 |
| retinal dystrophy | HP:0000556 | 2 | 2 |
Linked variants
Variants normalized to MRPL49| Variant | HGVS / rsID | Articles | Mentions |
|---|
No normalized variants are linked to this gene.
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|
No structured population context is available.
Supporting publications
2 records- 2025Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.American journal of human geneticsPubMed ↗
- 2024Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.medRxiv : the preprint server for health sciencesPubMed ↗