Auditory-pigmentary syndrome, GRID1-related
Phenotype Details
- Phene ID
- 6521
- Name
- Auditory-pigmentary syndrome, GRID1-related
- Phene Name
- short stature–auditory depigmentation syndrome; coat colour white
- OMIA ID
- 3002
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2025
Molecular Genetics
Jacinto et al. (2025) used "a trio-based whole-genome sequencing approach" to identify "a likely pathogenic missense variant in GRID1 (XP_024842694.1:p.Pro489His) [omia.variant:1831] in [a Simmental animal] with short stature-auditory depigmentation syndrome".