Combined oxidative phosphorylation defect type 23

disorder

SNOMED 1173036000CUI C5567743

Overview

Combined oxidative phosphorylation defect type 23 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 cytochrome C oxidase in muscle tissue

Always present (100%)HP:0003688

Higher than normal levels of lactate in blood

Always present (100%)HP:0002151

Cardiomyopathy, hypertrophic

Very frequent (80-99%)HP:0001639

Lacticacidemia

Very frequent (80-99%)HP:0003128

Brain and/or spinal cord issue

Frequent (30-79%)HP:0000707

Hypotonia, early

Frequent (30-79%)HP:0008947

Muscular hypotonia

Frequent (30-79%)HP:0001252

Abnormal basal ganglia MRI signal intensity

Occasional (5-29%)HP:0012751

Abnormal brainstem MRI signal intensity

Occasional (5-29%)HP:0012747

Abnormal heart rate

Occasional (5-29%)HP:0011675

Abnormal thalamic MRI signal intensity

Occasional (5-29%)HP:0012696

Blue discoloration of the skin

Occasional (5-29%)HP:0000961

Cardiac insufficiency

Occasional (5-29%)HP:0001635

Cognitive deficits

Occasional (5-29%)HP:0100543

Cognitive delay

Occasional (5-29%)HP:0001263

Decreased activity of mitochondrial complex I

Occasional (5-29%)HP:0011923

Decreased activity of mitochondrial complex IV

Occasional (5-29%)HP:0008347

Feeding difficulties

Occasional (5-29%)HP:0011968

Feeding difficulties in infancy

Occasional (5-29%)HP:0008872

Intrauterine growth retardation, IUGR

Occasional (5-29%)HP:0001511

Left ventricular wall hypertrophy

Occasional (5-29%)HP:0001712

Leukodystrophy

Occasional (5-29%)HP:0002415

Mental retardation, mild

Occasional (5-29%)HP:0001256

Paroxysmal dyspnea

Occasional (5-29%)HP:0012763

Poor vision

Occasional (5-29%)HP:0000505

Postnatal failure to thrive

Occasional (5-29%)HP:0001508

Respiratory failure

Occasional (5-29%)HP:0002878

Right ventricular hypertrophy

Occasional (5-29%)HP:0001667

Seizures

Occasional (5-29%)HP:0001250

Severely reduced ejection fraction

Occasional (5-29%)HP:0012666

Related Conditions

Inherited metabolic disorder of nervous system(parent)

Disorder of mitochondrial respiratory chain complexes(parent)

Mitochondrial cytopathy(parent)

Cardiovascular system hereditary disorder(parent)

Developmental hereditary disorder(parent)

Recessive hereditary disorder (autosomal)(parent)

Mitochondrial cardiomyopathy(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1173036000
UMLS CUI: C5567743
Fully Specified Name: Combined oxidative phosphorylation defect type 23 (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.