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Brain Hypomyelination (Weimaraner Type) Overview

Brain Hypomyelination (Weimaraner Type)
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Category: Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene: NKX2-8

Variant Detected: c.174del_G;ins2bp(AA)

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

Test Overview: Also referred to as neural tube defect (NTDs) or spina bifida. A birth defect caused by the closure of the neural tube.

Research Citation(s): PLoS Genet. 2013;9(7):e1003646.

Associated Breed(s): Weimaraner,  Weimaraner Long Hair ,