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Associated Breed(s):
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Labels:
Category:
Metabolic - Associated with the enzymes and metabolic processes of cells
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:
Iduronidase alpha-L- (IDUA) on Chromosome 3
Variant Detected:
Base Substitution c.173+1G>A p.donor splice site of intron 1
Mode of Inheritance:
Autosomal Recessive
OMIA Reference:
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