Global Variome shared LOVD

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Phenotype #0000333167 Individual ID 00443890 Associated disease NDD Diagnosis/Initial early-infantile onset epilepsy, developmental delay Diagnosis/Definite DEE89 Phenotype details see paper; ..., severe delay in all milestones, no sitting or crawling; severe intellectual disability; high myopia; normal hearing; no dysmorphic facial features; no cleft palate; severe hypotonia; 2m-onset epilepsy; focal to bilateral motor seizures with impaired awareness; 1 seizure/week, partially controlled ; EEG onset hypsarrhythmia; 4m-EEG generalized epileptiform activity; 2m-cardiovascular MRI normal Inheritance Familial, autosomal recessive Age/Examination 3y (3 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-12-05 15:52:20 +01:00 (CET) Date last edited N/A

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