Global Variome shared LOVD

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

Phenotype #0000310949 Individual ID 00419668 Associated disease DEE32;EIEE32 Phenotype details Focal-onset seizure HP:0007359, Neurodevelopmental delay HP:0012758, Intellectual disability HP:0001249, Inability to walk HP:0002540, Hypotonia HP:0001252, Ataxia HP:0001251 Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Irina Romanova Database submission license Creative Commons Attribution 4.0 International Created by Irina Romanova Date created 2022-10-20 16:47:34 +02:00 (CEST) Date last edited 2022-10-21 10:37:25 +02:00 (CEST)

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