Global Variome shared LOVD

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

Phenotype #0000203566 Individual ID 00265780 Associated disease MC4DN Phenotype details age onset infancy; hypotonia, muscle weakness, facial weakness, high arched palate, no respiratory disorder; ECG normal; myopatholgy no ragged red fiber, uniformly decreased cytochrome C oxidase, lipid droplets Diagnosis/Initial cytochrome C oxidase deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 09y (9 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-10-05 14:51:47 +02:00 (CEST) Date last edited 2019-10-05 14:59:45 +02:00 (CEST)

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