Craniofacial dysplasia-hydrocephalus-dwarfism syndrome
Phenotype Details
- Phene ID
- 6697
- Name
- Craniofacial dysplasia-hydrocephalus-dwarfism syndrome
- Phene Name
- Trisomy 23
- OMIA ID
- 3022
- Species ID
- 9913
- Characterised
- No
- Characterised Year
- N/A
Inheritance
Trisomy 23
Molecular Genetics
Jacinto et al. (2025) investigated an Angus calf with a craniofacial dysmorphism-hydrocephalus-dwarfism syndrome using a whole genome sequencing based approach: "No single potential candidate variant was identified with the SNVs and small indel prioritization approach [used in this study]. Accordingly, we examined the presence of larger structural variants and chromosomal abnormalities. Analysis of the depth of coverage along the chromosomes revealed a trisomy of chromosome 23, whereas the parental genomes exhibited normal karyotypes."