Global Variome shared LOVD

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Phenotype #0000288433 Individual ID 00395233 Associated disease epilepsy Phenotype details birth 40w, abnormal intrauterine movements, no fetal distress, OFC 0.02-0.09; no anemia at birth; no acidosis; no raised blood lactate; no respiratory distress; neonatal hypertonia; no neonatal hypotonia; no abdominal distension, vomiting, or feed intolerance; <24h seizures; EEG no burst suppression, reduced background activity, focal discharge(s); tonic seizures, no clonic seizures, generalized tonic-clonic seizures, myoclonic seizures, no lip-smacking and/or grimacing seizures, response to pyridoxine; no respiratory depression upon treatment with pyridoxine in neonatal period; speech delay; motor delay; learning difficulties; breakthrough seizures with fever; acquired microcephaly; minor dysmorphic features Diagnosis/Initial epilepsy Inheritance Familial, autosomal recessive Diagnosis/Definite EPVB6D Age/Examination 9y (9 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-12-03 21:41:36 +01:00 (CET) Date last edited N/A

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