Mutations in UFM1 gene may lead to:
• Intellectual disability
• Severe global developmental delay (e.g., almost complete lack of motor or cognitive skills, absent language development)
• Decreased muscle tone in the central body (e.g., trunk) and peripheral body (e.g., arms and legs). Stiffness of muscle movement may also be seen.
• Seizures (seen in most reported cases)
• Brain imaging with MRI may or may not show abnormalities (e.g., delayed myelination of brain cells, decreased of certain brain regions)
• Subtle facial variations
• Smaller-than-normal head
• Abnormalities in eye movement
• Blindness and hearing loss (less common features)
UFM1