Global Variome shared LOVD

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

Phenotype #0000231992 Individual ID 00306147 Associated disease ECHS1D Phenotype details Suspected Mitochondrial Disease Died before dx was made Regression after multiple decompensations, Leigh Syndrome Diagnosis/Initial Mitochondrial Disease Inheritance Familial, autosomal recessive Diagnosis/Definite ECHS1 disease Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset 6m Protein - Owner name Mariella Simon Database submission license No license selected Created by Mariella Simon Date created 2020-07-09 00:04:12 +02:00 (CEST) Date last edited 2020-07-09 14:12:55 +02:00 (CEST)

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