The common features of the SLC25A22-related disorders are:
• Early onset seizures (< 2 months of age)
• Very low muscle tone
• No psychomotor acquisition (or some in moderate cases)
• Severe developmental delay (all motor and cognitive acquisitions are delayed compare to child of the same age)
Specific features for severe phenotype:
• Seizures, not curable
• Small head circumference and decrease of the brain’s
• Altered visual and auditory capacity
SLC25A22