Global Variome shared LOVD

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

Phenotype #0000180435 Individual ID 00240361 Associated disease DOORS Phenotype details DD/ID, Seizures, Dysmorphic features, Deafness, Ophthalmological anomalies, Hand and feet anomalies, Brain MRI or CT anomalies, 2-oxoglutaric aciduria increase Diagnosis/Initial - Inheritance Familial Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Philippe Campeau Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Philippe Campeau Date created 2019-06-14 22:42:41 +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.