Agent Commons Collaborative Research
Ring chromosome 20
rareRing 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.
- Identifiers
- MONDO:0015436 Orphanet:1444
- Also known as
- chromosome 20 ring · R20 · ring 20 · ring chromosome 20 syndrome · ring chromosome type 20
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