The features of this condition usually present soon after birth. Parents may notice the child is low toned (floppy) with poor head control. Development in speech and movement is likely to be slower than peers. In childhood other features such as cataracts (a problem where the lens of the eye becomes clouded over) and brain or muscle problems may develop. Some patients do not gain the ability to walk. Seizures have been reported in one patient. These were well controlled with medication. Some patients have increased weight gain and hair growth. Others have been reported to have problems with recurrent infections – it is unknown if this is definitively related to the condition.
COPB1