Global Variome shared LOVD

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Phenotype #0000128112 Individual ID 00155730 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details pregnancy/birth unremarkable; 3m-failure to thrive, low consciousness, muscular hyoptonia; lactate elevated in plasma and cerebrospinal fluid; MRI brain abnormal signal intensities basal ganglia and brain stem; 1y3m died Inheritance Familial, autosomal recessive Age/Examination 01y03m (1 year, 3 months) Age/Diagnosis - Age/Onset 00y06m 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 2018-03-24 16:08:01 +01:00 (CET) Date last edited N/A

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