Global Variome shared LOVD

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

Phenotype #0000180455 Individual ID 00240390 Associated disease ENC Phenotype details developmental delay; developmental regression; febrile-induced regression 5m15d; no epilepsy; progressive microcephaly; hypotonia; myoclonic jerks; cerebellar atrophy; no basal ganglia involvement; hyponatremia upon acute presentation Diagnosis/Initial epilepsy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 7m15d 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 2019-06-19 15:18:02 +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.