Phenotype #0000172998

Individual ID	00229792
Associated disease	EIEE
Phenotype details	walks short distances; no speech; comprehension severely limited; 4m-possible regression; severe DD or ID; 4m-onset seizures; no MRI anomalies; hypotonia; no hypertonia; dystonic movement disorder; stereotypic repetitive behaviors; noise sensitivity, self-harm (exacerbated by anxiety); deep-set eyes, epicanthal folds, low anterior hairline, thick arched eyebrows, broad nasal tip
Diagnosis/Initial	early infantil epileptic encephalopathy
Inheritance	Isolated (sporadic)
Diagnosis/Definite	EIEE-64
Age/Examination	17y (17 years)
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