Global Variome shared LOVD

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Phenotype #0000288435 Individual ID 00395235 Associated disease epilepsy Phenotype details birth 36w3d, abnormal intrauterine movements, fetal distress, OFC 0.90; anemia at birth; acidosis; raised blood lactate; respiratory distress; neonatal hypertonia; no neonatal hypotonia; abdominal distension, vomiting, or feed intolerance; irritability; <24h seizures; EEG burst suppression; no clonic seizures, generalized tonic-clonic seizures, no myoclonic seizures, 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; no breakthrough seizures with fever; acquired microcephaly; Diagnosis/Initial epilepsy Inheritance Familial, autosomal recessive Diagnosis/Definite EPVB6D Age/Examination 3y6m (3 years, 6 months) 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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