Global Variome shared LOVD

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

Phenotype #0000141884 Individual ID 00179398 Associated disease EE Phenotype details see paper; …, profound global developmental delay, failure to thrive, progressive microcephaly, refractive epilepsy, subtle facial dysmorphism, severe axial hypotonia, appendicular hypertonia; MRI brain brain dysmyelination, volume loss; EEG hypsarrhythmia; premature death one case Diagnosis/Initial early-onset encephalopathy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2018-08-20 21:03:08 +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.