Phenotype #0000333151

Individual ID 00443874
Associated disease DEE
Diagnosis/Initial neonatal developmental and epileptic encephalopathy
Diagnosis/Definite DEE89
Phenotype details see paper; ..., 4y-deceased; -epileptic spasms, ‘eye twitches’; 2y-seizure-free; EEG at onset suppression-burst pattern; hyperreflexia, spasticity; profound intellectual disability; pes equinovarus; omphalocele; no cleft palate; joint contractures; dysmorphic facial features
Inheritance Familial, autosomal recessive
Age/Examination 4y (4 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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