Phenotype #0000304382

Global Variome shared LOVD

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

Individual ID	00412377
Associated disease	NDD
Diagnosis/Initial	intellectual disability, epilepsy
Diagnosis/Definite	-
Phenotype details	severe developmental dealy, absent speech, generalized epilepsy, encephalopathy, hypotonia, dystonia/dyskinesia, macrocephaly, cerebral atrophy,white matter abnormalities, ventriculomegaly
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-06-27 21:35:38 +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.