Global Variome shared LOVD

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Phenotype #0000142608 Individual ID 00180154 Associated disease ? Diagnosis/Initial epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations Diagnosis/Definite AHC-2 Phenotype details (Pharmacoresistant) epilepsy (HP:0001250), multifocal seizures (HP:0030651), severe global developmental delay (HP:0011344), ventriculomegaly (HP:0002119), epicanthus (HP:0000286), depressed nasal bridge (HP:0005280). Inheritance Familial, autosomal dominant Age/Examination - 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 2018-08-24 19:40:22 +02:00 (CEST) Date last edited N/A

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