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Non-Syndromic Hearing Loss (NSHL) refers to hearing loss that is not associated with any other symptoms.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 7 |
| Mutation | c.5747G>C |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
Informations générales
Non-Syndromic Hearing Loss (NSHL) refers to hearing loss that is not associated with any other symptoms. In the Rottweiler, a recessive mutation to the gene LOXHD1 can cause a form of NSHL.
Caractéristiques cliniques
Affected puppies show impaired hearing within the first few weeks after birth, and may be completely deaf within several months.
Additional Information
Références
Pubmed ID: 33983508
Year published: 2021
Omia ID: 2336
Omia variant ID: