Global Variome shared LOVD

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

Phenotype #0000307847 Individual ID 00416081 Associated disease COQ10D Phenotype details see paper; ... (esp. treatment), delayed motor development; delayed cognitive development; truncal hypotonia; Diagnosis/Initial neurodevelopmental delay Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 3y (3 years) Age/Diagnosis - Age/Onset 6m Phenotype/Onset hypotonia, developmental delay 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.