Phenotype #0000333049

Individual ID 00443775
Associated disease ?
Diagnosis/Initial hyperekplexia, dysmorphic features
Diagnosis/Definite DEE112
Phenotype details see paper; ..., 11m-deceased; developmental and epileptic encephalopathy, early infantile developmental and epileptic encephalopathy; 3m:-tonic-clonic seizure; epileptic spasm, myoclonic seizure; 1d-hypotonia, global developmental delay, 4m-regression; profound developmental delay; MRI brain 9d-normal, 3-delayed myelination, mild cerebral atrophy
Inheritance Isolated (sporadic)
Age/Examination 00y11m (11 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2023-12-01 17:13:50 +01:00 (CET)
Date last edited 2023-12-01 19:56:27 +01:00 (CET)

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