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ring chromosome 20

Disease Summary
Associated Targets (0)

Explore Associated Targets
Mondo Description 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 behavioural problems. In rare cases, brain, kidney or heart malformations may be present.
Mondo Term and Equivalent IDs
MONDO:0015436:  ring chromosome 20
GARD:0001334: 
MESH:C580424: 
NCIT:C169001: 
Orphanet:1444: 
SCTID:23686004: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found