Global Variome shared LOVD

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Phenotype #0000304189 Individual ID 00412174 Associated disease ? Diagnosis/Initial tyrosine hydroxylase deficiency Diagnosis/Definite - Phenotype details see paper; ..., respiratory distress, progressive hypotonia, dysphagia, hypokinesia, reduced facial mimicry Inheritance Familial, autosomal recessive Age/Examination - 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 2022-06-23 10:14:40 +02:00 (CEST) Date last edited 2022-06-23 10:19:48 +02:00 (CEST)

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