An alteration has been detected in TMX2-CTNND1, TMX2 (TMX2-CTNND1 readthrough (NMD candidate)| thioredoxin related transmembrane protein 2) on Chromosome 11. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity