Global Variome shared LOVD

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

Phenotype #0000254737 Individual ID 00359352 Associated disease AHC Diagnosis/Initial - Diagnosis/Definite - Phenotype details Episodic quadriplegia (HP:0200072); Abnormality of eye movement (HP:0000496); Dystonia (HP:0001332); Seizure (HP:0001250); Intellectual disability, moderate (HP:0002342) 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 17:37:04 +01:00 (CET) Date last edited 2021-04-03 17:59:45 +02:00 (CEST)

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