Phenotype #0000337131

Individual ID 00447938
Associated disease EIEE
Phenotype details see paper; ..., global developmental delay, dysphagia, quadriparetic spastic cerebral palsy; seizure types migrating partial seizures, myoclonic, flexor spasm; EEG Generalized and multifocal spike wave discharges; MRI brain normal
Diagnosis/Initial early infantile epileptic encephalopathy
Inheritance Isolated (sporadic)
Diagnosis/Definite DEE33
Age/Examination -
Age/Diagnosis -
Age/Onset <1m
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 2024-02-02 18:50:24 +01:00 (CET)
Date last edited N/A

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