You are using an outdated browser. Please upgrade your browser to improve your experience.

developmental and epileptic encephalopathy, 16

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A severe autosomal recessive neurologic disorder characterized by onset of seizures in the first weeks or months of life. Seizures can be of various types, are unresponsive to medication, last for long periods of time, and occur frequently. Affected infants show psychomotor regression or lack of psychomotor development, as well as other neurologic features such as extrapyramidal signs and hypotonia. Most die in childhood.
Mondo Term and Equivalent IDs
MONDO:0014133:  developmental and epileptic encephalopathy, 16
UMLS:C3809173: