Global Variome shared LOVD

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

Phenotype #0000223977 Individual ID 00296571 Associated disease ? Diagnosis/Initial multiple mitochondrial respiratory chain complex deficiency Diagnosis/Definite - Phenotype details deceased; muscle not affected; central nervous system not affected; heart affected; liver not affected; deafness, renal tubular acidosis Inheritance Familial, autosomal recessive Age/Examination 10y (10 years) Age/Diagnosis - Age/Onset 6m 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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