Global Variome shared LOVD

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

Phenotype #0000050917 Individual ID 00064758 Associated disease - Phenotype details see paper; ..., hypotonia, deafness; elevated serum, urine, and CSF lactate levels; deceased respiratory failure Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 00y00m01d Phenotype/Onset lactic acidosis, hypotonia, feeding difficulties, deafness Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2016-05-10 22:41:43 +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.