Neuronal Ceroid Lipofuscinosis NCL (Golden Retriever Type)

Associated Breed(s):

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Category:

Genetic Diseases

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:

CLN5 intracellular trafficking protein (CLN5) on Chromosome 22

Variant Detected:

Nucleotide Deletion c.934_935delAG p.E312Vfs*6

Mode of Inheritance:

Recomended Screening:

Research Citation(s):