Phenotype #0000304360

Individual ID	00412355
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	see paper; ..., height 0 SD, OFC; acquired microcephaly; no short stature; developmental delay; intractable tonic seizures and infantile spasms, tonic eyelid closure, body stiffening, extension of the legs and flexion of the elbows associated with decreased level of consciousness; hypotonia, spasticity, brisk DTRs and limb clonus during early childhood; paroxysmal movements, spontanious movements; cortical visual impairment; no dysmorphism; G-tube feeding; MRI brain normal, showed small lactate peak over the left basal ganglia (difficult to rule out a seizure etiology); Hypsarrhythmia with chaotic, large-amplitude slow background activity with frequent multifocal epileptiform; no cardiac abnormalities
Inheritance	Isolated (sporadic)
Age/Examination	03y06m (3 years, 6 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-06-27 19:47:08 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD