Global Variome shared LOVD

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Phenotype #0000337595 Individual ID 00448407 Associated disease ? Diagnosis/Initial - Diagnosis/Definite LDMLS1 Phenotype details see paper; ..., 1d-delay noted; 6m-onset clonic seizure, 2y-focal impaired awareness seizure, 2y-focal clonic seizure; EEG 7m/2y-multifocal epileptiform discharges, ...; hypotonia; profound intellectual disability; nonverbal; nonambulatory; MRI brain mild ventricular asymmetry; sinus bradycardia (2y-asymptomatic; vertical nystagmus, retinopathy on ERG Inheritance Familial, autosomal recessive Age/Examination 2y (2 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-03-07 19:45:58 +01:00 (CET) Date last edited N/A

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