Phenotype #0000173001

Individual ID	00229795
Associated disease	EIEE
Phenotype details	does not walk; no speech; comprehension very limited; 4m-regression stagnation; severe DD or ID; 9m-onset seizures (status epilepticus); no MRI anomalies; truncal hypotonia; hypertonia lower limbs; chorea-like movement disorder (limbs); stereotypic hands in mouth; intense stare, uncontrollable laughter, bruxism, pleasant behavior; large ears, thin upper lip, slightly upturned nose
Diagnosis/Initial	early infantil epileptic encephalopathy
Inheritance	Isolated (sporadic)
Diagnosis/Definite	EIEE-64
Age/Examination	23m
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Intellectual_dis	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-04-10 22:37:14 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD