Phenotype #0000288436
| Individual ID |
00395236 |
| Associated disease |
epilepsy |
| Phenotype details |
birth 35w1d, no abnormal intrauterine movements, fetal distress, OFC 0.09; no anemia at birth; acidosis; raised blood lactate; respiratory distress; no neonatal hypertonia; neonatal hypotonia; abdominal distension, vomiting, or feed intolerance; irritability; <24h seizures; EEG burst suppression, multifocal spikes; tonic seizures, no clonic seizures, no generalized tonic-clonic seizures, myoclonic seizures, lip-smacking and/or grimacing seizures, response to pyridoxine; 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 |
5y6m (5 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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