Clinical Characteristics

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