Opitz-Kaveggia syndrome/FG syndrome
What are the causes?
Opitz-Kaveggia/ FG syndrome is sometimes due to a mutation in a gene called MED12 that is located on the X chromosome. Female carriers are generally unaffected but a few carriers may have some symptoms or signs. Because MED12 gene mutations have been identified recently, DNA-based postnatal and prenatal diagnosis may be possible in the future in some but not all families.
What are the symptoms?
| How is it diagnosed? ![]()