← Back to Conditions
Mitochondrial complex I deficiency nuclear type 10
disorderSNOMED 1365878007CUI C4748768
Overview
Mitochondrial complex I deficiency nuclear type 10 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.
Areflexia
Always present (100%)HP:0001284
Ataxia
Always present (100%)HP:0001251
Central hypotonia
Always present (100%)HP:0001252
Cognitive delay
Always present (100%)HP:0001263
Decreased activity of mitochondrial complex I
Always present (100%)HP:0011923
Deglutition disorder
Always present (100%)HP:0002015
Feeding difficulties
Always present (100%)HP:0011968
Horizontal nystagmus
Always present (100%)HP:0000666
Hyporeflexia
Always present (100%)HP:0001265
Increased CSF lactic acid
Always present (100%)HP:0002490
Involuntary, rapid, rhythmic eye movements
Always present (100%)HP:0000639
Optic atrophy
Always present (100%)HP:0000648
Respiratory failure
Always present (100%)HP:0002878
Sleep apnea
Always present (100%)HP:0010535
Wide based walk
Always present (100%)HP:0002136
CPEO
Very rare (1-4%)HP:0000544
Seizures
Very rare (1-4%)HP:0001250
Apnea
HP:0002104
Central hypoventilation
HP:0007110
Dysmetria
HP:0001310
Encephalopathy
HP:0001298
Leukoencephalopathy
HP:0002352
Quick Facts
- SNOMED CT
- 1365878007
- UMLS CUI
- C4748768
- Fully Specified Name
- Mitochondrial complex I deficiency nuclear type 10 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 22
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.