A mutation found in LOC101927178, PPP2R3C (uncharacterized LOC101927178| protein phosphatase 2 regulatory subunit B''gamma) on Chromosome 14 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy