Mutations in UFC1 gene may lead to:
• Intellectual disability
• Global developmental delay (e.g., delayed walking, delayed speech, etc.)
• Decreased muscle tone in the central body (e.g., trunk)
• Increased muscle tone in the peripheral body (e.g., arms and legs) associated with exaggerated reflexes
• Seizures (seen in half of the reported cases)
• Brain imaging with MRI may or may not show abnormalities (e.g., delayed myelination of brain cells)
• Subtle facial variations
• Smaller-than-normal head
• Abnormalities in eye movement
UFC1