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Associated Breed(s):
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Labels:
Category:
Metabolic - Associated with the enzymes and metabolic processes of cells
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 chr22:30574949-30574950 (canFam3): 2 bp deletion (del AG)
Mode of Inheritance:
Autosomal Recessive
OMIA Reference:
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