Global Variome shared LOVD

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Phenotype #0000210225 Individual ID 00275614 Associated disease ? Diagnosis/Initial seizures Diagnosis/Definite - Phenotype details birth at term, birth weight 4,300g (+1.49), length 53cm (+0.68); weight 27.7kg (+0.79), height 120cm (-0.88), OFC 55cm (>+2.00); global developmental delay; gross motor delay; fine motor delay; febrile partial seizures, myoclonic seizures; EEG bioccipital bi-phasic spikes, then centro-temporal spikes with continuous spikes + waves during sleep; dysmetria; hypotonia; no hypertonia; MRI brain normal (2y6m, 5y6m); no ophthalmological findings; no cardiovascular anomalies; no musculoskeletal findings; no brachycephaly; tall or broad forehead; long face; protruding ears; no short nose, no long philtrum; no hypotonic face, no open mouth; no high arched palate Inheritance Isolated (sporadic) Age/Examination 7y6m (7 years, 6 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-01-11 14:20:58 +01:00 (CET) Date last edited N/A

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