Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000328317 Individual ID 00438413 Associated disease epilepsy Phenotype details HP:0001250 seizures; HP:0000411 protruding ear; HP:0000750 delayed speech and language development; HP:0000752 hyperactivity; HP:0001249 intellectual disability; HP:0002353 eeg abnormality; HP:0012758 neurodevelopmental delay Diagnosis/Initial epilepsy Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 6y 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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