Ring chromosome 20

Ring chromosome 20 syndrome is marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioral problems. In rare cases, brain, kidney or heart malformations may be present.

Also known as: ring chromosome 20 syndrome, ring chromosome type 20, R20, chromosome 20 ring, ring 20

0 clinical trials for this condition and its sub-types, 0 tagged with Ring chromosome 20 itself.