RREB1

The protein is a zinc finger transcription factor that binds to RAS-responsive elements in gene promoters and regulates expression of genes including calcitonin and angiotensinogen. Mutations cause autosomal dominant developmental delay with variable intellectual disability, behavioral abnormalities, and distinctive facial features, typically manifesting in early childhood. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to cause significant developmental consequences.