Global Variome shared LOVD

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Phenotype #0000025877 Individual ID 00032400 Associated disease COQ10D Phenotype details see paper; ... (esp. treatment), 3d-died multi-organ failure; birth preterm ; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; 1d-seizures, myoclonic; no stroke like episodes; encephalopathy; 3d-respiratory distress/insufficiency; no cardiomyopathy; distal arthrogryposis; prenatal ultrasound malformation of cerebellum Diagnosis/Initial respiratory distress Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 00y00m03d (3 days) Age/Diagnosis - Age/Onset 00y00m01d Phenotype/Onset respiratory distress 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 20:20:04 +01:00 (CET) Date last edited 2022-08-22 17:52:01 +02:00 (CEST)

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