Phenotype #0000173000

Individual ID 00229794
Associated disease EIEE
Phenotype details 3y-walks; speaks few short words; comprehension good; 3y-regression; moderate DD or ID; 3y-onset seizures (focal status); MRI right hemispheric swelling after left hemiplegia and focal seizures; axial hypotonia; hypertonia mild left spastic hemiparesis; paroxysmal dystonic attacks; no stereotypies; no behavioral anomalies ; slightly smooth philtrum; left hemiplegia, bilateral fifth-finger clinodactyly
Diagnosis/Initial early infantil epileptic encephalopathy
Inheritance Isolated (sporadic)
Diagnosis/Definite EIEE-64
Age/Examination 3y (3 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Intellectual_dis -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2019-04-10 22:37:14 +02:00 (CEST)
Date last edited N/A

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.