Global Variome shared LOVD

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

Phenotype #0000254733 Individual ID 00359355 Associated disease AHC Diagnosis/Initial - Diagnosis/Definite - Phenotype details Episodic hemiplegia (HP:0012194); Abnormality of eye movement (HP:0000496); Seizure (HP:0001250); Dystonia (HP:0001332); Intellectual disability, severe (HP:0010864) Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Elisa De Grandis Database submission license No license selected Created by Elisa De Grandis Date created 2021-03-22 15:55:02 +01:00 (CET) Date last edited 2021-04-03 18:00:00 +02:00 (CEST)

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