Phenotype #0000333164

Individual ID	00443887
Associated disease	NDD
Diagnosis/Initial	early-infantile onset epilepsy, developmental delay
Diagnosis/Definite	DEE89
Phenotype details	see paper; ..., delayed in all milestones, no head control, no sitting, no speech; severe intellectual disability; no dysmorphic facial features; no cleft palate; no skeletal abnormalities; mild hypotonia, spasticity in lower extremities, oropharyngeal dysphagia; 2m-onset epilepsy; focal non/motor seizures with impaired awareness, bilateral tonic clonic seizures; 28m-seizures refractory; EEG onset burst suppression; 28m4m-EEG slowing, multifocal epileptic discharges; 2m-cardiovascular MRI normal; NG-tube dependent
Inheritance	Familial, autosomal recessive
Age/Examination	22m
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