Phenotype #0000243888

Global Variome shared LOVD

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

Individual ID	00325401
Associated disease	?
Diagnosis/Initial	regressive encephalopathy
Diagnosis/Definite	-
Phenotype details	11m-onset seizures; general tonic seizures; profound intellectual disability
Inheritance	Familial, autosomal dominant
Age/Examination	-
Age/Diagnosis	14m
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-01-02 12:18:38 +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.