Global Variome shared LOVD

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

Phenotype #0000257676 Individual ID 00362265 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details Intellectual disability (HP:0001249); Seizure (HP:0001250); Dysarthria (HP:0001260); Global developmental delay (HP:0001263); Dystonia (HP:0001332); Gait ataxia (HP:0002066); Bilateral tonic-clonic seizure (HP:0002069); Generalized dystonia (HP:0007325); Neurodevelopmental abnormality (HP:0012759); Epileptic encephalopathy (HP:0200134) Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name IMGAG Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by IMGAG Date created 2021-04-19 16:05:01 +02:00 (CEST) Date last edited 2021-04-20 10:45:50 +02:00 (CEST)

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