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H992

Cerebellar Hypoplasia (CH) is a severe developmental disorder in which the cerebellum (hindbrain) fails to properly develop.

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Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Chromosome

Also known as

Year Published

General information

Cerebellar Hypoplasia (CH) is a severe developmental disorder in which the cerebellum (hindbrain) fails to properly develop. In the White Swiss Shepherd, a variant of the disorder that includes lissencephaly (development of a smooth brain) is caused by a recessive mutation to the gene RELN.

Clinical features

Affected puppies fail to properly gain weight and begin developing progressive ataxia (loss of coordination) at an age of around 2 weeks. They have difficulty standing and walking straight, as well as difficulty nursing. The disorder is severe, and euthanasia is likely necessary within the first month of life.

Additional information

References

Pubmed ID: 37334487

Omia ID: 1867

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2. Collect DNA sample

Collect DNA material as indicated with our products and send it to our laboratory.

3. Results

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