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Neuronal Ceroid Lipofuscinosis 1 Overview

Neuronal Ceroid Lipofuscinosis 1
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Category: Neurologic (Associated with the Brain, Spinal and Nerves)

Gene: PPT1

Variant Detected: c.736_737insC

Severity: Scale 4 has a high degree of severity. It generally causes a decreased quality of life and may also decrease the life expectancy.

Mode of Inheritance: Autosomal Recessive

Research Citation(s): Mol Genet Metab. 2010 Aug;100(4):349-56

Associated Breed(s): Dachshund ,  Miniature Dachshund Long Hair,  Miniature Dachshund Smooth Hair,  Miniature Dachshund Wire Hair,  Standard Dachshund Long Hair,  Standard Dachshund Smooth Hair,  Standard Dachshund Wire Hair,