ring chromosome 20 syndrome

Term ID

DOID:0070622

Synonyms

• r(20) syndrome
• r20 syndrome
• ring 20
• ring 20 syndrome
• ring chromosome 20
• ring chromosome 20 epilepsy syndrome

Definition

A ring chromosome syndrome characterized by recognizable epileptic phenotype with typical EEG pattern, intellectual disability manifesting after seizure onset in otherwise normally developing children, and behavioral changes that has_material_basis_in chromosome 20 fusion into a ring or ring-like structure. (2)

References

• GARD:1334
• MESH:C580424
• NCI:C169001
• ORDO:1444
• UMLS_CUI:C0265482

Ontology

Human Disease   ( DOID:0070622 )