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Cerebellar Hypoplasia (CH) is a severe developmental disorder in which the cerebellum (part of the hindbrain) fails to properly develop.
10 Arbeidsdager
Spesifikasjoner
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Svaber, EDTA blod, heparinblod, sæd, vev |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Generell informasjon
Cerebellar Hypoplasia (CH) is a severe developmental disorder in which the cerebellum (part of the 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 mutation to the gene RELN, which is probable autosomal recessive.
Kliniske egenskaper
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.
Tilleggsinformasjon
Referanser
Pubmed ID: 37334487
Omia ID: 1867