Pathogenic variants in the MORC2 gene cause two distinct conditions: Charcot–Marie–Tooth disease type 2Z, an isolated peripheral neuropathy, and DIGFAN syndrome, a more severe neurodevelopmental disorder with early onset. Analyzing our patients and previously described cases with early-onset phenotype, we show that DIGFAN syndrome can be stratified into two neurological subtypes: one predominantly neuromuscular, the other predominantly affecting the central nervous system. Western blot analysis of protein expression levels revealed no significant difference between variants associated with these distinct clinical phenotypes, indicating that reduced protein expression alone does not account for phenotypic variability. Further studies are required to clarify the molecular mechanisms underlying this genotype–phenotype relationship. (https://jmg.bmj.com/content/early/2026/08/27/jmg-2025-110787)