Children with Paganini-Miozzo syndrome usually show delays in development. This may include learning to sit, walk, or speak later than expected, as well as difficulties with learning and understanding. Some children may have seizures (epilepsy) or abnormal electrical activity in the brain. Brain scans can sometimes show mild differences in brain structure.
Vision problems can occur, such as strong short-sightedness (myopia), although this is not present in all children. Some children may have mild differences in facial features, which are often subtle and not always noticeable. Feeding difficulties can be present, especially in early life, and some children may grow more slowly than expected.
Other features, such as changes in blood tests (for example related to metabolism or liver function), have been reported in some cases, but not all children are affected in the same way. The condition can vary from one child to another.
HS6ST2