Cleft palate, syndromic, WDR33-related
Phenotype Details
- Phene ID
- 6457
- Name
- Cleft palate, syndromic, WDR33-related
- Phene Name
- syndromic cleft palate with pentalogy of Fallot and internal hydrocephalus
- OMIA ID
- 2970
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2025
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1814 | Cleft palate, syndromic | 398299024 | Unknown | 2 | NC_037329.1:g.4772428C>T | NM_001206078.1: c.2617C>T | NP_001193007.1: p.(P873S) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Belgian Blue (Cattle) | 49 | 9913 | http://purl.obolibrary.org/obo/VBO_0000139 |
Molecular Genetics
Bolcato et al. (2025): Genetic analysis identified a missense variant in WDR33 (omia.variant:1814) that was heterozygous in both analyzed cases [Belgian Blue cross calves] and in an estimated 40% of the paternal gametes of the mosaic [Belgian Blue] founder, but absent in both dams and controls. ... The genetic findings were most consistent with a likely pathogenic dominant de novo mutation in WDR33 as the underlying cause of the observed congenital syndrome."