Global Variome shared LOVD

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Phenotype #0000301092 Individual ID 00408974 Associated disease RMFSL Phenotype details in utero myoclonic spasms;neonatal-onset intractable focal seizures; congenital rigidity; dysautonomia (hypothermia, apnea, bradycardia, sids) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite syndrome, rigidity and multifocal seizure, lethal neonatal (RMFSL) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-29 17:32:37 +02:00 (CEST) Date last edited N/A

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