Early‑Onset Epilepsy, Mitochondrial Dysfunction and Neurodegeneration

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:

PITRM1

Variant Detected:

deletion c.175_180del chr2

Mode of Inheritance:

Recomended Screening:

Research Citation(s):