Response to Himanshu Goel

In our original report, we identified biallelic FAT3 variants as a cause of axonal neuropathy accompanied by multisystem neurodevelopmental features and proposed FAT3-associated disease as a novel clinical entity, which is characterized by a spectrum of peripheral and central neurological manifestations.1 We thank Dr Goel for his thoughtful comments and for highlighting the potential relevance of neural crest-related mechanisms in FAT3-associated disease. Dr Goel raises an intriguing hypothesis that FAT3-related disease may overlap with the neurocristopathy spectrum, based on the clinical similarities with SOX10-related phenotypes and the broad distribution of developmental abnormalities observed in our study.