Global Variome shared LOVD

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Phenotype #0000337592 Individual ID 00448404 Associated disease ? Diagnosis/Initial - Diagnosis/Definite LDMLS1 Phenotype details see paper; ..., 1d-delay noted; 11d-onset seizures, focal hemiclonic seizure, 3m-epileptic spasms, 21m-focal to bilateral tonic-clonic seizure/focal tonic seizure; EEG 1m-multifocal epileptiform discharges, 3m-burst suppression; hypotonia, contractures; profound intellectual disability; nonverbal; nonambulatory; sinus bradycardia with 4.2 s pauses (1d-cyanosis); cortical visual impairment, optic atrophy; no ERG; pyloric stenosis, G-tube, scoliosis Inheritance Familial, autosomal recessive Age/Examination 10y (10 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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