Global Variome shared LOVD

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

Phenotype #0000343744 Individual ID 00455153 Associated disease CWS5 Phenotype details HP:0000750 Delayed speech and language development HP:0001270 Motor delay HP:0001300 Parkinsonism HP:0001250 Seizure NO signs of overgrowth Normal brain MRI Diagnosis/Initial Epileptic encephalopathy Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 30y (30 years) Age/Diagnosis - Age/Onset 03y Phenotype/Onset Chilhood onset Protein - Owner name Maria Elena García Paya Database submission license Creative Commons Attribution 4.0 International Created by Maria Elena García Paya Date created 2024-10-02 07:56:29 +02:00 (CEST) Date last edited 2024-10-02 09:13:39 +02:00 (CEST)

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