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Associated Breed(s):
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Labels:
Category:
Musculoskeletal - Associated with muscles, bones and associated structures
Severity:
Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.
Gene:
Chloride voltage-gated channel 1 (CLCN1) on chromosome 16
Variant Detected:
c.2703-2704 insertion A p.Arg890Gln-frameshift888
Mode of Inheritance:
Autosomal Recessive
OMIA Reference:
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