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Spondylocostal Dysostosis (Miniature Schnauzer Type) Overview

Spondylocostal Dysostosis (Miniature Schnauzer Type)
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Category: Musculoskeletal - Associated with muscles, bones and associated structures

Gene: Hes family bHLH transcription factor 7 (HES7) Chromosome 5

Variant Detected: Nucleotide Deletion c.126delG p.Thr43ProfsTer24

Severity: Scale 1 has a very low degree of severity. It is a trait and so is tested based on preference, not usually for health concerns.

Mode of Inheritance: Autosomal Recessive

Research Citation(s): Willet CE, et al. Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs. (2015) PloS One 10(2): e0117055

Associated Breed(s): Miniature Schnauzer,  Schnoodle,