Global Variome shared LOVD

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

Phenotype #0000238687 Individual ID 00314929 Associated disease ? Diagnosis/Initial - Diagnosis/Definite DDCH Phenotype details see paper; deafness, dystonia, central hypomyelination, refractory seizure, fluctuating liver function impairment, progressive deterioration with febrile episodes, ...; 5y-deceased Inheritance Isolated (sporadic) Age/Examination 05y (5 years) Age/Diagnosis - Age/Onset - 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 2020-10-20 20:37:51 +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.