Phenotype #0000172994

Individual ID 00229788
Associated disease EIEE
Phenotype details 2.5y-does not walk ; no speech; comprehension limited; no regression; severe DD or ID; 4d-onset seizures (generalized); delayed myelinationMRI ; hypotonia; choreatic, dystonic, paroxysmal dyskinetic attacks; no stereotypies; no behavioral anomalies ; low nasal bridge, epicanthal folds
Diagnosis/Initial early infantil epileptic encephalopathy
Inheritance Isolated (sporadic)
Diagnosis/Definite EIEE-64
Age/Examination 3y6m (3 years, 6 months)
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

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