Individuals with mutations in RALA often have developmental delays like delays in crawling, walking, or talking. They often have hypotonia, or weakness, and also have intellectual disability. Some probands have low weight, short stature, and unique facial features. Some individuals also present with seizures, structural brain abnormalities detected by MRI, and skeletal changes like clinodactyly (curved fingers) and toe syndactyly (toes that are partly joined together).
RALA