Global Variome shared LOVD

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

Phenotype #0000321074 Individual ID 00430266 Associated disease COXPD10 Phenotype details Neurodevelopmental delay, Motor delay, Decreased activity of mitochondrial complex IV, Decreased activity of mitochondrial complex I, Hypertrophic cardiomyopathy, Intellectual disability, mild, Increased serum lactate Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 08y (8 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2023-01-16 14:54:20 +01:00 (CET) Date last edited 2023-01-17 12:13:33 +01:00 (CET)

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