Categories: Skeleton phene (incl. short stature & teeth) , Craniofacial phene , Chromosomal phene

Single-gene trait/disorder: no

Disease-related: yes

Key variant known: no

Species-specific name: Trisomy 23

Inheritance: Trisomy 23

Molecular basis: 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."

Breed: Angus (Cattle) (VBO_0000104).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).