Phenotype #0000337130

Individual ID 00447937
Associated disease EIEE
Phenotype details see paper; ..., global developmental delay, postnatal microcephaly, spastic quadriparetic CP, chorea, dystonia; seizure types focal onset with secondary generalized tonic clonic; EEG Focal slowing; MRI brain normal
Diagnosis/Initial early infantile epileptic encephalopathy
Inheritance Isolated (sporadic)
Diagnosis/Definite DEE13
Age/Examination 04y (4 years)
Age/Diagnosis -
Age/Onset 00y02m
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 2024-02-02 19:01:45 +01:00 (CET)

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