Bifunctional peroxisomal enzyme deficiency

disorder

SNOMED 238068007CUI C0342870

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Calcific stippling

Always present (100%)HP:0002832

Central hypotonia

Always present (100%)HP:0001252

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

Very long chain fatty acid accumulation

Always present (100%)HP:0008167

Hypotonia, in neonatal onset

Very frequent (80-99%)HP:0001319

Scaphocephaly

Very frequent (80-99%)HP:0030799

Seizures

Very frequent (80-99%)HP:0001250

Abolished electroretinogram

Frequent (30-79%)HP:0000550

Big calvaria

Frequent (30-79%)HP:0000256

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

Depressed nasal root/bridge

Frequent (30-79%)HP:0005280

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

Enlarged liver

Frequent (30-79%)HP:0002240

Foot, talipes equinovarus

Frequent (30-79%)HP:0001762

Frontal protuberance

Frequent (30-79%)HP:0002007

High arched palate

Frequent (30-79%)HP:0000218

High forehead

Frequent (30-79%)HP:0000348

Hypoacusis

Frequent (30-79%)HP:0000365

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

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Low-set ears

Frequent (30-79%)HP:0000369

Mongoloid slant

Frequent (30-79%)HP:0000582

More grooves in brain

Frequent (30-79%)HP:0002126

Related Conditions

Loss of single peroxisomal function(parent)

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.