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Progressive Retinal Atrophy, crd SWD

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Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

Nephrocystin 4 (NPHP4) on Chromosome 5

Variant Detected:

Nucleotide Deletion g.62913591–62913770del (exon 5/intron 5)

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Wiik AC, et al. A deletion in nephronophthisis 4 (NPHP4) is associated with recessive cone-rod dystrophy in standard wire-haired dachshund. (2008) Gen Res 18(9);1415-1421.

Associated Breed(s):

Miniature Dachshund Wire Hair, Mixed Breed,

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