Phenotype #0000333154

Individual ID 00443877
Associated disease DEE
Diagnosis/Initial neonatal developmental and epileptic encephalopathy
Diagnosis/Definite DEE89
Phenotype details see paper; ..., 1d-myoclonic seizure; 10y-last seizure; EEG at onset dysrhythmia; 10y-last seizure; axial hypotonia, spasticity, dystonia; profound intellectual disability; no pes equinovarus; no omphalocele; no cleft palate; no joint contractures; no dysmorphic facial features; MRI brain normal
Inheritance Familial, autosomal recessive
Age/Examination 11y (11 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2023-12-05 10:17:31 +01:00 (CET)
Date last edited N/A

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