Ring chromosome 20 syndrome

Also known as: Ring 20 syndrome

Chromosomal disorder with refractory epilepsy and nonconvulsive status.

Medical specialty: Neurology
Subspecialty: Neurology / Epilepsy; Neurogenetics
Sex & age distribution: Male: affected; Female: affected equally (slight female predominance reported); Children: yes, onset in childhood
Gene(s) involved: None recorded

Etiology & mechanism

Ring chromosome 20 (often mosaic).

Gene(s) involved (0)

No gene recorded.

Symptoms & signs (5)

behavioral changescognitive impairmentdrug-resistant focal seizuresfrontal seizuresnonconvulsive status

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.