Global Variome shared LOVD

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

Phenotype #0000238619 Individual ID 00314861 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details Epileptic encephalopathy, myoclonic jerks from day 1, profound intellectual disability, cardiomyopathy, cortical blindness, tracheostomy, PEG feeding, hydronephrosis, progressive cerebellar and cerebral atrophy, and leukoencephalopathy. Inheritance Familial, autosomal recessive Age/Examination 4y (4 years) Age/Diagnosis - Age/Onset 1d 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 15:09:17 +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.