Global Variome shared LOVD

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Phenotype #0000333163 Individual ID 00443886 Associated disease NDD Diagnosis/Initial early-infantile onset epilepsy, developmental delay Diagnosis/Definite DEE89 Phenotype details see paper; ..., delayed in all milestones, sitting and crawling; severe intellectual disability; normal vision; normal hearing; dysmorphic facial features; no cleft palate; arthrogryposis of lower limbs; brisk deep tendon reflexes, stereotypic hand movements, oral automatisms; 6m-onset epilepsy; focal motor seizures with impaired awareness, bilateral tonic clonic seizures; seizures 10y-controlled (7y-last seizure); EEG onset multifocal and generalized epileptogenic activity; 7y-EEG normal; 6m-cardiovascular MRI prominent ventricular space; Inheritance Familial, autosomal recessive Age/Examination 7y (7 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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