Phenotype #0000333152

Individual ID 00443875
Associated disease DEE
Diagnosis/Initial neonatal developmental and epileptic encephalopathy
Diagnosis/Definite DEE89
Phenotype details see paper; ..., 14d-myoclonic seizure; 5m-generalized tonic-clonic seizures; EEG at onset suppression-burst pattern; drug-resistant epilepsy; tetraparesis, increased muscle tonus limbs; conductive hearing loss; profound intellectual disability; pes equinovarus; no omphalocele; cleft palate; no joint contractures; no dysmorphic facial features; MRI brain 3y-normal
Inheritance Familial, autosomal recessive
Age/Examination 12y (12 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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