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Polyneuropathy ARHGEF10 (Leonberger/Saint Bernard Type) Overview

Polyneuropathy ARHGEF10 (Leonberger/Saint Bernard Type)
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Category: Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene: ARHGEF10

Variant Detected: c.1955_1958+6del CACGGTGAGC

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): PLoS Genet. 2014 Oct 2;10(10):e1004635