Phenotype #0000252758

Individual ID 00334873
Associated disease MRD
Diagnosis/Initial progressive myoclonus epilepsy , dementia
Diagnosis/Definite MRD55
Phenotype details Onset age 4 of febrile seizure and subsequent developmental regression. Daily absence seizures, associated with eyelid myoclonus from 4 years of age and upper limb myoclonus at 8 years of age. Stable ataxia, moderate cognitive decline noted. MRI: cerebellar atrophy.
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Carolina Courage
Database submission license No license selected
Created by Johan den Dunnen
Date created 2021-03-03 09:51:17 +01:00 (CET)
Date last edited 2021-04-14 09:11:45 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.