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L2-Hydroxyglutaric Aciduria (Staffordshire Bull Terrier Type) - Variant 2
Category:
Nervous system / Neurologic - Associated with the brain, spinal cord and nerves
Gene:
L2HGDH
Variant Detected:
Chr. 8: c.1298_1300delinsCTT p.(L433_H434delinsPY)
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.
Mode of Inheritance:
Autosomal Recessive
Research Citation(s):
https://pubmed.ncbi.nlm.nih.gov/20852250/
Associated Breed(s):
Staffordshire Bull Terrier ,
