Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Clonic seizure
Always present (100%)HP:0020221
Elevated circulating pipecolic acid concentration
Always present (100%)HP:6000268
Generalized tonic-clonic seizure (without specification of onset)
Always present (100%)HP:0002069
Seizures
Always present (100%)HP:0001250
Speech difficulties
Very frequent (80-99%)HP:0000750
Abnormal intrauterine movements
Frequent (30-79%)HP:0001557
Central hypotonia
Frequent (30-79%)HP:0001252
Early onset petit mal seizures
Frequent (30-79%)HP:0011152
EEG with burst suppression
Frequent (30-79%)HP:0010851
EEG: generalized slow activity
Frequent (30-79%)HP:0010845
Feeding difficulties
Frequent (30-79%)HP:0011968
Focal aware motor seizure
Frequent (30-79%)HP:0020217
Focal seizures
Frequent (30-79%)HP:0007359
Hypoplasia of corpus callosum
Frequent (30-79%)HP:0002079
Irritability
Frequent (30-79%)HP:0000737
Low APGAR score
Frequent (30-79%)HP:0030917
Neurodevelopmental delay
Frequent (30-79%)HP:0012758
Nonsyndromal hydrocephalus
Frequent (30-79%)HP:0000238
Prolonged seizure
Frequent (30-79%)HP:0002133
Respiratory distress, neonatal
Frequent (30-79%)HP:0002643
Squint
Frequent (30-79%)HP:0000486
Brain wasting
Occasional (5-29%)HP:0012444
Delayed CNS myelination
Occasional (5-29%)HP:0002188
Dilated cerebral ventricle
Occasional (5-29%)HP:0002119
EEG with generalised sharp slow waves
Occasional (5-29%)HP:0011199
EEG with generalized epileptiform discharges
Occasional (5-29%)HP:0011198
Eye movement issue
Occasional (5-29%)HP:0000496
Facial grimacing
Occasional (5-29%)HP:0000273
Hypsarrhythmia by EEG
Occasional (5-29%)HP:0002521
Large cisterna magna
Occasional (5-29%)HP:0002280
Related Conditions
Folinic acid responsive seizures(child)
Disorder of neurometabolic regulation(parent)
Recessive hereditary disorder (autosomal)(parent)
Hereditary disorder of endocrine system(parent)
Inherited metabolic disorder of nervous system(parent)
Disorder of gamma aminobutyric acid metabolism(parent)
DEE - developmental and epileptic encephalopathy(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 734434007
- UMLS CUI
- C1849508
- Fully Specified Name
- Pyridoxine-dependent developmental and epileptic encephalopathy (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.