Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Calcific stippling
Always present (100%)HP:0002832
Cognitive delay
Always present (100%)HP:0001263
Generalized tonic-clonic seizure (without specification of onset)
Always present (100%)HP:0002069
Increased liver function tests
Always present (100%)HP:0002910
Increased plasma levels of very long-chain fatty acid
Always present (100%)HP:0033643
Peripheral hypotonia
Always present (100%)HP:0001252
Very long chain fatty acid accumulation
Always present (100%)HP:0008167
Epilepsy
Very frequent (80-99%)HP:0001250
Hypotonia, in neonatal onset
Very frequent (80-99%)HP:0001319
Scaphocephaly
Very frequent (80-99%)HP:0030799
Abolished electroretinogram
Frequent (30-79%)HP:0000550
Addison's disease
Frequent (30-79%)HP:0008207
Concave bridge of nose
Frequent (30-79%)HP:0005280
Cystic kidney disease
Frequent (30-79%)HP:0000107
Decreased nerve conduction velocity
Frequent (30-79%)HP:0000762
Decreased projection of lower jaw
Frequent (30-79%)HP:0000347
Delayed closure of the fontanelles
Frequent (30-79%)HP:0000270
Dilated cerebral ventricle
Frequent (30-79%)HP:0002119
Dysmyelination of the brain
Frequent (30-79%)HP:0007266
Enlarged liver
Frequent (30-79%)HP:0002240
Fetal foot inversion
Frequent (30-79%)HP:0001762
Frontal protuberance
Frequent (30-79%)HP:0002007
Hearing impairment
Frequent (30-79%)HP:0000365
High arched palate
Frequent (30-79%)HP:0000218
High forehead
Frequent (30-79%)HP:0000348
Hypoplasia of corpus callosum
Frequent (30-79%)HP:0002079
Increased distance between eyes
Frequent (30-79%)HP:0000316
Increased length of philtrum
Frequent (30-79%)HP:0000343
Increased size of skull
Frequent (30-79%)HP:0000256
Involuntary, rapid, rhythmic eye movements
Frequent (30-79%)HP:0000639
Related Conditions
Quick Facts
- SNOMED CT
- 238068007
- UMLS CUI
- C0342870
- Fully Specified Name
- Bifunctional peroxisomal enzyme deficiency (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.