Global Variome shared LOVD

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

Phenotype #0000302530 Individual ID 00410425 Associated disease ? Diagnosis/Initial suspected mitochondriopathy Diagnosis/Definite COXPD23 Phenotype details see paper; ..., no hypertrophic cardiomyopathy, developmental delay, epileptic seizures, intellectual disability, MRI hyperintense lesions of basal ganglia typical to Leigh syndrome, lactic acidosis Inheritance Familial, autosomal recessive Age/Examination 5y (5 years) Age/Diagnosis - Age/Onset 2y Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-05-26 09:28:08 +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.