Global Variome shared LOVD

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Phenotype #0000243896 Individual ID 00325409 Associated disease ? Diagnosis/Initial Leigh-like, regression Diagnosis/Definite - Phenotype details 4m-onset seizures; apnea, cyanosis, opisthotonos; severe developmental delay, hypertonia Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis 8m 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 2021-01-02 12:18:38 +01:00 (CET) Date last edited N/A

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