Phenotype #0000223746

Individual ID	00296271
Associated disease	epilepsy
Phenotype details	rolling over-12m,; meaningful words 24-36m; seizure, developmental delay; walk-1y5m; severe intellectual disability (IQ=25 17y); speech few words; no microcephaly; 6y-generalized tonic-clonic seizures, 9y-absence seizure, 11y-atonic seizure; seizure therapy intractable; regression motor skill and dysarthria; ataxia; intention tremor; rigidity; myoclonus; spasticity; increased deep tendon reflex upper and lower limbs; pathogenic reflex Rossolimo sign positive, Mendel-Bechterew sign positive; no dysmorphic features; wheelchair-bound; MRI brain normal; EEG abnormal discharge in right hemisphere (6 years), burst of diffuse irregular spikes and slow waves (9 years), diffuse spike and slow waves in frontal, parietal and temporal regions (14 years); somatosensory evoked potential prolonged N20 latency and high amplitude of P24-N33
Diagnosis/Initial	epilepsy
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	22y (22 years)
Age/Diagnosis	-
Age/Onset	6y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-04-04 16:39:45 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD