L2-Hydroxyglutaric Aciduria (Staffordshire Bull Terrier Type) - Variant 2

Associated Breed(s):

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Category:

Genetic Diseases

Severity:

Severe. This disease has a high impact on affected animals, either with severe clinical signs causing significant suffering, or carrying a rapidly fatal course.

Gene:

L2HGDH

Variant Detected:

Chr. 8: c.1298_1300delinsCTT p.(L433_H434delinsPY)

Mode of Inheritance:

Recomended Screening:

Research Citation(s):