Dwarfism, primordial disproportionate with craniofacial dysmorphism, PDGFRA-related
Phenotype Details
- Phene ID
- 6685
- Name
- Dwarfism, primordial disproportionate with craniofacial dysmorphism, PDGFRA-related
- Phene Name
- N/A
- OMIA ID
- 3012
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2025
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1841 | Dwarfism, primordial disproportionate and craniofacial dysmorphism | 398299053 | 1 | 6 | NC_037333.1:g.69749162T>C | NM_001192345.2:c.1685T>C | NP_001179274.1:p.(I562T) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Holstein Friesian (Cattle) | 73 | 9913 | http://purl.obolibrary.org/obo/VBO_0000239 |
Molecular Genetics
Jacinto et al. (2025) investigated a Holstein calf with primordial disproportionate dwarfism and craniofacial dysmorphism using a whole genome sequencing approach: "A heterozygous pathogenic missense variant in exon 12 of PDGFRA [Chr6:g.69749162 T > C; c.1685 T > C; p.Ile562Thr; omia.variant:1841], which replaces residue 562, was found and might be due to a spontaneous de novo mutation. However, due to the lack of parental DNA, we could not prove this."