Clinical Characteristics

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)