Global Variome shared LOVD

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

Phenotype #0000343286 Individual ID 00454645 Associated disease mitochondrial Diagnosis/Initial pyruvate dehydrogenase complex deficiency Diagnosis/Definite - Phenotype details pshycomotor delay, microcephaly, hypoacusis, Leigh syndrome Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset <01y Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial 4.0 International Created by Johan den Dunnen Date created 2024-09-23 12:06:52 +02:00 (CEST) Date last edited N/A

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