Global Variome shared LOVD

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Phenotype #0000307832 Individual ID 00416066 Associated disease COQ10D Phenotype details see paper; ... (esp. treatment), 2d-died multi-organ failure; birth preterm ; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; 1d-seizures; no stroke like episodes; 2d-respiratory distress/insufficiency; prenatal ultrasound cerebellar hypoplasia Diagnosis/Initial respiratory distress Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 00y00m02d (2 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 2022-08-22 17:54:26 +02:00 (CEST) Date last edited N/A

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