Phenotype #0000230184

Individual ID 00303100
Associated disease EE
Phenotype details seizures atypical absence (3y), atonic, Aura, focal dyscognitive seizures, myoclonic jerks; EEG single spike wave, multi-focal discharges; development prior to seizures delayed; Severe intellectual disability, autism spectrum disorder, regression
Diagnosis/Initial epileptic encephalopathy
Inheritance Isolated (sporadic)
Diagnosis/Definite MRD5
Age/Examination 26y (26 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 2020-06-06 19:15:13 +02:00 (CEST)
Date last edited N/A

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