Global Variome shared LOVD

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Phenotype #0000232857 Individual ID 00307031 Associated disease ? Diagnosis/Initial - Diagnosis/Definite HPDL deficiency disorder Phenotype details EMG abnormality， DD/ID， Hypertonia， Spasm， Increased serum lactate Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset 12y Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Wenjuan Qiu Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Wenjuan Qiu Date created 2020-07-28 10:35:05 +02:00 (CEST) Date last edited 2020-07-29 09:08:59 +02:00 (CEST)

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