Phenotype #0000288438

Individual ID	00395238
Associated disease	epilepsy
Phenotype details	birth 39w, no abnormal intrauterine movements, no fetal distress, OFC 0.25-0.50; no anemia at birth; no acidosis; no respiratory distress; no neonatal hypertonia; no neonatal hypotonia; no abdominal distension, vomiting, or feed intolerance; no irritability; EEG no burst suppression, no reduced background activity, no focal discharge(s), no multifocal spikes; no clonic seizures, generalized tonic-clonic seizures, no myoclonic seizures, response to pyridoxine; no speech delay; no motor delay; learning difficulties; breakthrough seizures with fever; no microcephaly; no dysmorphic features
Diagnosis/Initial	epilepsy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	EPVB6D
Age/Examination	16y (16 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-12-03 21:41:36 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD