Global Variome shared LOVD

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Phenotype #0000082482 Individual ID 00104565 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details born at term, uneventful pregnancy; birth weight/height/head circumference normal; mild developmental delay10m-crawling, 18m walking; 18m myoclonic epilepsy; 4y brain MRI normal, ECG generalized spike/(poly)spike waves discharges; 7y difficulty speech/language/walking, no pyramidal and cerebellar syndromes; 12y never seizure-free (1 every 10d; 19y minor facial dysmorphy, dental anomalies, strabismus, down turned corners mouth Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Karine Poirier Database submission license No license selected Created by Johan den Dunnen Date created 2017-05-15 16:07:08 +02:00 (CEST) Date last edited 2019-03-01 10:53:40 +01:00 (CET)

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