Phenotype #0000333055

Individual ID 00443781
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite DEE112
Inheritance Isolated (sporadic)
Phenotype details see paper; ...; developmental and epileptic encephalopathy; 10m-focal impaired awareness seizure; myoclonic-atonic seizure, myoclonic seizure, tonic-clonic seizure; 6y-seizure offset; 15m-language delay, no regression; moderate intellectual disability, sentences, ambulatory, self-feeds; MRI brain 10m/4y-normal
Age/Examination 9y (9 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 2023-12-02 16:06:35 +01:00 (CET)
Date last edited N/A

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