Neuronal Ceroid Lipofuscinosis 8 (English Setter Type)

Associated Breed(s):

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Labels:

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Gene:

CLN8, transmembrane ER and ERGIC protein (CLN8) on Chromosome 37

Variant Detected:

Base Substitution c.491C>T p.Leu164Pro

Mode of Inheritance:

Autosomal Recessive