Global Variome shared LOVD

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Phenotype #0000307858 Individual ID 00416092 Associated disease COQ10D Phenotype details see paper; ... (esp. treatment), 70d-died coma; normal intrauterine growth; birth full term; normal growth; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; no stroke like episodes; 1d-respiratory distress/insufficiency; feeding difficulties; no cardiomyopathy; cMRI prenatal normal; MRI brain prenatal-2d cerebellar hypoplasia; no cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement; Diagnosis/Initial neurodevelopmental delay Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 70d Age/Diagnosis - Age/Onset 1d 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 19:29:13 +02:00 (CEST) Date last edited N/A

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