Global Variome shared LOVD

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

Phenotype #0000323535 Individual ID 00432974 Associated disease NEDSGA Diagnosis/Initial - Diagnosis/Definite - Phenotype details Agitation, Opisthotonus, Hypertonia, Hyperreflexia, Neurodevelopmental delay, Failure to thrive in infancy, Secundum atrial septal defect, Exaggerated startle response, Glutaric aciduria Inheritance Unknown Age/Examination 00y06m (6 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2023-02-27 15:22:28 +01:00 (CET) Date last edited 2023-02-28 12:08:18 +01:00 (CET)

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