Global Variome shared LOVD

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Phenotype #0000342150 Individual ID 00453489 Associated disease DEE Diagnosis/Initial epileptic encephalopathy Diagnosis/Definite DEE86 Phenotype details see paper; ..., uncomplicated pregnancy, born term by Cesarean section (previous Cesarean section); severe developmental delay; progressively immobile, can walk some steps unaided; childhood seizures after febrile episode, regression psychomotor skills, focal clonic seizures with impaired awareness to bilateral seizures, often in clusters up to 10, during night/early morning, as teenager, interictal subtle myoclonus hands and fingers; EEG intermittent focal epileptic phenomena in temporal regions, slow background activity without normal differentiation, high amplitude slow waves over frontotemporal regions; axial hypotonic, extremities slightly hypertonic, initially higher, later low tendon reflexes with extensor plantar responses, some ataxia of gait and hands; no mmicrocephaly; brain enlargement of central and peripheral CSF spaces, normal aspect white matter, basal ganglia, thalamus, and brainstem, arteriovenous malformation right cerebellar hemisphere, otherwise normal cerebellum, thickened skull by broad diploic space Inheritance Familial, autosomal recessive Age/Examination - 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 2024-09-06 15:48:27 +02:00 (CEST) Date last edited N/A

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