Global Variome shared LOVD

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Phenotype #0000328281 Individual ID 00438377 Associated disease epilepsy Phenotype details HP:0001250 seizures; HP:0000750 delayed speech and language development; HP:0001249 intellectual disability; HP:0011344 severe global developmental delay; HP:0002353 eeg abnormality; HP:0003739 myoclonic spasms; HP:0002333 motor deterioration; HP:0001510 growth delay; HP:0008315 decreased plasma free carnitine; HP:0001410 decreased liver function Diagnosis/Initial epilepsy Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 3y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-10-20 19:13:42 +02:00 (CEST) Date last edited N/A

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