Depigmentation syndrome
Phenotype Details
- Phene ID
- 6522
- Name
- Depigmentation syndrome
- Phene Name
- N/A
- OMIA ID
- 3003
- Species ID
- 9913
- Characterised
- No
- Characterised Year
- N/A
Molecular Genetics
Jacinto et al. (2025) used "a trio-based whole-genome sequencing approach" to identify a homozygous variant of uncertain significace in RAD54B (chr14:g.69964786_69964792delinsAACTTAATTTTTTGTTAA; NM_001192955.1:c.2164_2170_delins; NP_001179884.1:p.Ala722_Gly724delinsAsnLeuIlePheCys*) in an affected Simmental calf with an syndromic form of depigmentation.