Global Variome shared LOVD

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Phenotype #0000015953 Individual ID 00017594 Associated disease DPDD Phenotype details 9m-febrile convulsions, severe neuromotor retardation, spastic tetraplegia, cerebral MRI ventriculomegaly with white-matter hypodensity microcephaly, growth retardation; 6y- thymine-uraciluria Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Enzyme/Activity <0.01 (fibroblasts) Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2014-06-19 22:48:18 +02:00 (CEST) Date last edited N/A

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