Main symptoms of MAN1B1-CDG are as follows:
• Intellectual disability: Difficulty learning and understanding things
• Delayed motor skills: Taking longer than usual to crawl, walk, and use hands
• Unusual facial features: Thick eyebrows with sparse ends, droopy eyelids, bulbous nose tip, big ears, and a thin upper lip
• Extra weight around the belly and chest: This is not seen in other types of Congenital Disorders of Glycosylation (CDG)
• Low muscle tone: Feeling floppy or weak
• Larger than average head
• Seizures, especially a specific type called "West syndrome"
• Abnormal brain activity on an EEG test
• Delayed speech development
• Shaky, rapid eye movements
• Muscle weakness
• Nerve damage that affects movement and sensation
• Eye abnormalities
• Long, thin fingers
• Loose joints that bend too easily
• Stretchy skin
• Curved spine
• Stroke caused by low levels of certain proteins in the blood
• Bulging in the main artery of the heart
• Excessive hunger
• Excessive drooling
• Elevated liver enzymes
Brain scans: Some people with MAN1B1 deficiency have MRI scans that show bright areas in certain parts of the brain, especially in the back. This is because the brain hasn't fully developed yet.
In some cases, the brain scan may look normal.