Search Phenotypes

Cerebellar abiotrophy, CACNA2D2-related

Jacinto et al. (2026): "Genetic analysis [of two affected Angus calvse] identified a private homozygous missense variant [omia.variant:1852] in the bovine CACNA2D2 gene (XP_024839037.1:p.(Cys395Arg)), which is linked to neurological disorders in other species, including a form of cerebellar atrophy in humans."

OMIA ID: 3025Inheritance: 5Characterised: YesYear: 2026

Chediak-Higashi syndrome

By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Kunieda et al. (1999) identified a missense mutation (A to G) in the bovine LYST gene, producing an amino-acid substitution of histidine to arginine (H2015R) in the resultant peptide.

OMIA ID: 185Inheritance: 5Characterised: YesYear: 1999