Global Variome shared LOVD

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Phenotype #0000025875 Individual ID 00032398 Associated disease COQ10D Phenotype details see paper; ... (esp. treatment), 1d-died cardio-respiratory failure; normal intrauterine growth; birth full term; normal growth; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; truncal hypotonia; no stroke like episodes; 1d-respiratory distress/insufficiency; chf, hypertrophic septum, hypoplastic ventricles Diagnosis/Initial cardio-respiratory failure Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 00y00m01d (1 day) Age/Diagnosis - Age/Onset 00y00m01d Phenotype/Onset cardio-respiratory failure Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2015-02-20 20:06:49 +01:00 (CET) Date last edited 2022-08-22 17:46:21 +02:00 (CEST)

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