Here, we describe the first cohort of seven individuals, from four unrelated families, with biallelic variants in NDC1. The affected individuals present with alacrima, achalasia, and neurological features including developmental delay/intellectual disability, demyelinating and secondary axonal polyneuropathy, facial weakness, tongue fasciculation, and hypotonia, resembling the features observed in triple A syndrome. The gene discussed is NDC1; the disease is Triple A syndrome.