Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000223999 Individual ID 00296593 Associated disease ? Diagnosis/Initial multiple mitochondrial respiratory chain complex deficiency Diagnosis/Definite - Phenotype details deceased; muscle affected; central nervous system affected; heart not affected; liver not affected; failure to thrive, elevated cerebrospinal fluid lactate Inheritance Unknown Age/Examination 18m Age/Diagnosis - Age/Onset 7m 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 2020-04-08 15:05:07 +02:00 (CEST) Date last edited N/A

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