Global Variome shared LOVD

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Phenotype #0000083729 Individual ID 00095413 Associated disease MC4DN Phenotype details see paper; ..., mitochondrial complex IV deficiency (HP:0008347), neurodevelopmental regression (HP:0002376), medulla oblongata lesions (HP:0011441) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Herma Renkema Database submission license No license selected Created by Johan den Dunnen Date created 2017-06-25 09:56:30 +02:00 (CEST) Date last edited N/A

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