Global Variome shared LOVD

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

Phenotype #0000307865 Individual ID 00416099 Associated disease COQ10D Phenotype details see paper; ... (esp. treatment), 1y-died respiratory failure; intrauterine growth restriction; birth full term; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; truncal hypotonia; 2m-seizures; no stroke like episodes; 1d-respiratory distress/insufficiency; cardiomegaly; intrauterine growth restriction; Diagnosis/Initial neurodevelopmental delay Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 1y (1 year) Age/Diagnosis - Age/Onset 1d Phenotype/Onset seizures 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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.