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Mitochondrial DNA depletion syndrome 13 encephalomyopathic type
disorderSNOMED 765403009CUI C3809592
Overview
Mitochondrial DNA depletion syndrome 13 encephalomyopathic type is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
3-Methylglutaconic aciduria
Always present (100%)HP:0003535
Absolute lymphocyte count decrease
Always present (100%)HP:0001888
CNS hypomyelination
Always present (100%)HP:0003429
Decreased activity of cytochrome C oxidase in muscle tissue
Always present (100%)HP:0003688
Decreased serum immunoglobulin
Always present (100%)HP:0004313
Delay in head control
Always present (100%)HP:0002421
Elevated urinary 3-hydroxybutyric acid
Always present (100%)HP:0040155
Elevated urine fumaric acid level
Always present (100%)HP:0034648
Encephalopathy
Always present (100%)HP:0001298
Enlarged fetal cisterna magna
Always present (100%)HP:0011427
Extensor plantar responses
Always present (100%)HP:0003487
Frontal protuberance
Always present (100%)HP:0002007
Generalised brain degeneration
Always present (100%)HP:0002283
Higher than normal levels of lactate in blood
Always present (100%)HP:0002151
Hydronephrosis
Always present (100%)HP:0000126
Hyperalaninemia
Always present (100%)HP:0003348
Hyperkinetic movements
Always present (100%)HP:0002487
Increased reflexes
Always present (100%)HP:0001347
Increased urine lactate
Always present (100%)HP:0003648
Inguinal hernia
Always present (100%)HP:0000023
Lacticacidemia
Always present (100%)HP:0003128
Leukodystrophy
Always present (100%)HP:0002415
Low number of red blood cells or haemoglobin
Always present (100%)HP:0001903
Metabolic acidosis
Always present (100%)HP:0001942
More grooves in brain
Always present (100%)HP:0002126
Nonsyndromal hydrocephalus
Always present (100%)HP:0000238
Prominent frontal suture
Always present (100%)HP:0005487
Prominent supraorbital margins
Always present (100%)HP:0000336
Short chin
Always present (100%)HP:0000331
Small cerebellum
Always present (100%)HP:0001321
Related Conditions
Quick Facts
- SNOMED CT
- 765403009
- UMLS CUI
- C3809592
- Fully Specified Name
- F-box and leucine rich repeat protein 4 related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (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.