Phenotype #0000333163

Individual ID	00443886
Associated disease	NDD
Diagnosis/Initial	early-infantile onset epilepsy, developmental delay
Diagnosis/Definite	DEE89
Phenotype details	see paper; ..., delayed in all milestones, sitting and crawling; severe intellectual disability; normal vision; normal hearing; dysmorphic facial features; no cleft palate; arthrogryposis of lower limbs; brisk deep tendon reflexes, stereotypic hand movements, oral automatisms; 6m-onset epilepsy; focal motor seizures with impaired awareness, bilateral tonic clonic seizures; seizures 10y-controlled (7y-last seizure); EEG onset multifocal and generalized epileptogenic activity; 7y-EEG normal; 6m-cardiovascular MRI prominent ventricular space;
Inheritance	Familial, autosomal recessive
Age/Examination	7y (7 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-12-05 15:52:20 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD