Phenotype #0000333062

Individual ID	00443788
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	DEE112
Inheritance	Isolated (sporadic)
Phenotype details	see paper; ...; 9y-deceased (pneumonia); developmental and epileptic encephalopathy, early infantile developmental and epileptic encephalopathy; 1m-focal tonic seizure; epileptic spasm, tonic-clonic seizure, myoclonic seizure; 1d-hypotonia, global developmental delay, no regression; profound intellectual disability: no speech, nonambulatory; G-tube; MRI brain 3w-increased signal posterior fossa, CT scan 2y-cerebral atrophy
Age/Examination	9y (9 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-12-02 16:06:35 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD