Phenotype #0000317222

Global Variome shared LOVD

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

Individual ID	00426058
Associated disease	DEE
Diagnosis/Initial	developmental and epileptic encephalopathy
Diagnosis/Definite	-
Phenotype details	10m-deceased; 3m-onset seizures, epileptic spasms, focal seizures, refractory; profound developmental delay, GMFCS V, CFCS V; hyperkinetic dystonic movement disorder, profound hypotonia, cortical visual impairment; ; EEG hypsarrhythmia
Inheritance	Isolated (sporadic)
Age/Examination	10m
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-11-27 10:28:01 +01:00 (CET)
Date last edited	N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.