Phenotype #0000173002

Individual ID	00229796
Associated disease	EIEE
Phenotype details	1.5y-walks; speaks rare two-word combination; comprehension good; no regression; severe DD or ID; 5.5m-onset seizures (febrile), >6y-no febrile seizures; no MRI anomalies; no hypotonia; no hypertonia; no movement disorder; no stereotypies; autistic, biting, head banging; long philtrum
Diagnosis/Initial	early infantil epileptic encephalopathy
Inheritance	Isolated (sporadic)
Diagnosis/Definite	EIEE-64
Age/Examination	11y6m (11 years, 6 months)
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