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Multiple mitochondrial dysfunctions syndrome type 2

disorder
SNOMED 1208486005CUI C3280378

Overview

Multiple mitochondrial dysfunctions syndrome type 2 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.

Decreased activity of mitochondrial complex II
Always present (100%)HP:0008314
Decreased activity of the pyruvate dehydrogenase complex
Always present (100%)HP:0002928
Dullness
Always present (100%)HP:0001254
Enlarged liver
Always present (100%)HP:0002240
Epileptic encephalopathy
Always present (100%)HP:0200134
High glycine levels in cerebrospinal fluid
Always present (100%)HP:0500230
Hyperglycinemia
Always present (100%)HP:0002154
Laboured breathing
Always present (100%)HP:0002098
Lacticacidosis
Always present (100%)HP:0003128
Mental and motor retardation
Always present (100%)HP:0001263
Respiratory complex I deficiency
Always present (100%)HP:0011923
Respiratory complex III deficiency
Always present (100%)HP:0011924
Seizures
Always present (100%)HP:0001250
Stretched and thinned heart muscle
Always present (100%)HP:0001644
Sweating
Always present (100%)HP:0000975
Tachypnea
Always present (100%)HP:0002789
Ataxia
Occasional (5-29%)HP:0001251
Impaired vision
Occasional (5-29%)HP:0000505
Jerking
Occasional (5-29%)HP:0001336
Optic atrophy
Occasional (5-29%)HP:0000648
Cardiomyopathy, hypertrophic
HP:0001639
Decreased activity of mitochondrial respiratory complexes
HP:0008972
Delay in head control
HP:0002421
Extrapyramidal dysfunction
HP:0002071
Generalised decreased muscle tone
HP:0001290
Involuntary muscle stiffness, contraction, or spasm
HP:0001257
Leukodystrophy
HP:0002415
Muscle weakness
HP:0001324
Psychomotor regression
HP:0002376
Reduced tissue glycine cleavage enzyme activity
HP:6000829

Related Conditions

Multiple mitochondrial dysfunctions syndrome(parent)
DEE - developmental and epileptic encephalopathy(parent)
Inherited metabolic disorder of nervous system(parent)
Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT
1208486005
UMLS CUI
C3280378
Fully Specified Name
Multiple mitochondrial dysfunctions syndrome type 2 (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.