Mucopolysachharidose de type 6 (MPS6)

(Balinese, Birman, Domestic Shorthair, Javanese, Oriental Shorthair, Peterbald, Seychellois,...plus
Disease
autosomal recessive
Breed
Balinais, European shorthair, Javanais, Oriental shorthair, Peterbald, Sacré de Birmanie (Birman), Siamois, Thaï, Tonkinois
Heredity
Cats with MPS VI which show the severe phenotype exhibit dwarfism and facial dysmorphia due to epiphyseal dysplasia and lysosomal inclusions in most tissues including chondrocytes, corneal clouding, degenerative joint disease and abnormal leukocyte inclusions. Cats with the mild phenotype show similar but milder symptoms and have normal growth and appearance.
Test duration
sequencing
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