Combined oxidative phosphorylation defect type 27

disorder

SNOMED 1172844009CUI C5567608

Overview

Combined oxidative phosphorylation defect type 27 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.

Arc de cercle

Always present (100%)HP:0002179

Central hypotonia

Always present (100%)HP:0001252

Cerebral cortex atrophy

Always present (100%)HP:0002120

Choreiform movements

Always present (100%)HP:0002072

Degeneration of cerebellum

Always present (100%)HP:0001272

Dystonic movements

Always present (100%)HP:0001332

Feeding difficulties

Always present (100%)HP:0011968

Generalized tonic-clonic seizure (without specification of onset)

Always present (100%)HP:0002069

High blood ammonia levels

Always present (100%)HP:0001987

Intellectual deterioration

Always present (100%)HP:0001268

Involuntary jerking movements

Always present (100%)HP:0001336

Microvesicular steatosis

Always present (100%)HP:0001414

Poor vision

Always present (100%)HP:0000505

Postnatal failure to thrive

Always present (100%)HP:0001508

Thinning of the corpus callosum

Always present (100%)HP:0033725

Cortical white matter abnormalities seen on MRI

Frequent (30-79%)HP:0002500

Decreased activity of mitochondrial complex I

Frequent (30-79%)HP:0011923

Decreased activity of mitochondrial complex III

Frequent (30-79%)HP:0011924

Decreased activity of mitochondrial complex IV

Frequent (30-79%)HP:0008347

Decreased visual acuity, progressive

Frequent (30-79%)HP:0000529

Diffuse cerebral atrophy

Frequent (30-79%)HP:0002506

Dull intelligence

Frequent (30-79%)HP:0001249

Epileptic encephalopathy

Frequent (30-79%)HP:0200134

Generalised brain degeneration

Frequent (30-79%)HP:0002283

Generalized myoclonic seizure

Frequent (30-79%)HP:0002123

Hearing impairment

Frequent (30-79%)HP:0000365

Higher than normal levels of lactate in blood

Frequent (30-79%)HP:0002151

Multifocal onset seizures

Frequent (30-79%)HP:0031165

Prolonged seizure

Frequent (30-79%)HP:0002133

Psychomotor development deficiency

Frequent (30-79%)HP:0001263

Related Conditions

Hereditary degenerative disease of central nervous system(parent)

Inherited metabolic disorder of nervous system(parent)

Disorder of mitochondrial respiratory chain complexes(parent)

Mitochondrial cytopathy(parent)

Recessive hereditary disorder (autosomal)(parent)

DEE - developmental and epileptic encephalopathy(parent)

Developmental hereditary disorder(parent)

Degenerative brain disorder(parent)

Quick Facts

SNOMED CT: 1172844009
UMLS CUI: C5567608
Fully Specified Name: Combined oxidative phosphorylation defect type 27 (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.