Phenotype #0000328633

Individual ID 00438735
Associated disease DEE
Diagnosis/Initial developmental and epileptic encephalopathy
Diagnosis/Definite DEE92
Phenotype details see paper; ..., global developmental delay, severe intellectual disability; 4y-seizure; EEG bi-frontal predominance spike-wave or sharp spike-wave; MRI brain normal; acquired microcephaly, non-ambulation, hypotonia, intractable seizures
Inheritance Isolated (sporadic)
Age/Examination 14y06m (14 years, 6 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2023-10-23 13:16:15 +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.