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MMDS1 - multiple mitochondrial dysfunctions syndrome type 1
disorderSNOMED 1208485009CUI C3276432
Overview
MMDS1 - multiple mitochondrial dysfunctions syndrome type 1 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.
Alpha-aminoadipic aciduria
Always present (100%)HP:0410309
Arc de cercle
Always present (100%)HP:0002179
Decreased activities of mitochondrial-encoded respiratory chain complexes
Always present (100%)HP:0008972
Dullness
Always present (100%)HP:0001254
Elevated circulating 2-hydroxybutyric acid concentration
Always present (100%)HP:0033418
Episodic metabolic acidosis
Always present (100%)HP:0004911
Extrapyramidal dysfunction
Always present (100%)HP:0002071
Facial paresis
Always present (100%)HP:0007209
Feeding difficulties
Always present (100%)HP:0011968
Focal seizures
Always present (100%)HP:0007359
High glycine levels in cerebrospinal fluid
Always present (100%)HP:0500230
High urine glycine levels
Always present (100%)HP:0003108
Higher than normal levels of lactate in blood
Always present (100%)HP:0002151
Increased CSF lactic acid
Always present (100%)HP:0002490
Increased urine alpha-ketoglutarate concentration
Always present (100%)HP:0012402
Increased urine lactate
Always present (100%)HP:0003648
Involuntary jerking movements
Always present (100%)HP:0001336
Lacticacidosis
Always present (100%)HP:0003128
Leukoencephalopathy
Always present (100%)HP:0002352
Regression of motor skills
Always present (100%)HP:0033044
Respiratory complex II deficiency
Always present (100%)HP:0008314
Respiratory failure
Always present (100%)HP:0002878
Respiratory function loss
Always present (100%)HP:0002093
Spastic tetraparesis
Always present (100%)HP:0001285
Truncal hypotonia
Always present (100%)HP:0008936
Hyperglycinemia
Very frequent (80-99%)HP:0002154
Poor weight gain
Very frequent (80-99%)HP:0001508
Mental and motor retardation
Frequent (30-79%)HP:0001263
Muscle weakness
Frequent (30-79%)HP:0001324
Psychomotor regression
Frequent (30-79%)HP:0002376
Related Conditions
Quick Facts
- SNOMED CT
- 1208485009
- UMLS CUI
- C3276432
- Fully Specified Name
- Multiple mitochondrial dysfunctions syndrome type 1 (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.