Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Absence of corpus callosum
Always present (100%)HP:0001274
Hepatic insufficiency
Always present (100%)HP:0001399
Impaired release of bile from liver
Always present (100%)HP:0001406
Increased urine succinate level
Always present (100%)HP:0033092
Mitochondrial swelling
Always present (100%)HP:0030774
Decreased fumarate hydratase activity
Very frequent (80-99%)HP:0003536
Ascites
Frequent (30-79%)HP:0001541
Bilateral fetal pyelectasia
Frequent (30-79%)HP:0011129
Conjunctival icterus
Frequent (30-79%)HP:0032106
Depressed nasal root/bridge
Frequent (30-79%)HP:0005280
Dilated cerebral ventricle
Frequent (30-79%)HP:0002119
Dullness
Frequent (30-79%)HP:0001254
Encephalopathy
Frequent (30-79%)HP:0001298
Failure to thrive in first year of life
Frequent (30-79%)HP:0001531
Feeding difficulties in infancy
Frequent (30-79%)HP:0008872
Fewer or absent grooves in brain
Frequent (30-79%)HP:0001339
Frontal protuberance
Frequent (30-79%)HP:0002007
Increased amniotic fluid index
Frequent (30-79%)HP:0001561
Increased distance between eyes
Frequent (30-79%)HP:0000316
Muscular hypotonia
Frequent (30-79%)HP:0001252
Necrotizing enterocolitis
Frequent (30-79%)HP:0033165
Perimembraneous ventricular septal defect
Frequent (30-79%)HP:0011682
Premature birth
Frequent (30-79%)HP:0001622
Psychomotor development deficiency
Frequent (30-79%)HP:0001263
Seizures
Frequent (30-79%)HP:0001250
Supratentorial atrophy
Frequent (30-79%)HP:0002059
Abnormality of the cerebral white matter
Occasional (5-29%)HP:0002500
Bilateral polymicrogyria
Occasional (5-29%)HP:0025646
Cerebral hypomyelination
Occasional (5-29%)HP:0006808
Coma
Occasional (5-29%)HP:0001259
Quick Facts
- SNOMED CT
- 237983002
- UMLS CUI
- C0342770
- Fully Specified Name
- Fumarate hydratase 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.