Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000288434 Individual ID 00395234 Associated disease epilepsy Phenotype details birth 36w6d, abnormal intrauterine movements, no fetal distress, OFC 0.09; no anemia at birth; acidosis; no raised blood lactate; no respiratory distress; no neonatal hypertonia; no neonatal hypotonia; no abdominal distension, vomiting, or feed intolerance; <24h seizures; EEG burst suppression, reduced background activity; no clonic seizures, generalized tonic-clonic seizures, no 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 6y (6 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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.