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Associated Breed(s):
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Labels:
Currently Undefined
A label cannot be assigned at this time as this is outside the defined scope
Category:
Musculoskeletal - Associated with muscles, bones and associated structures
Severity:
Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.
Gene:
Chloride voltage-gated channel 1 (CLCN1) on Chromosome 16
Variant Detected:
Base Substitution c.803C>T Thr268Met
Mode of Inheritance:
Autosomal Recessive
OMIA Reference:
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