Combined oxidative phosphorylation defect type 11

disorder

SNOMED 783558004CUI C5190991

Overview

Combined oxidative phosphorylation defect type 11 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.

Increased blood lactate

Always present (100%)HP:0002151

Lacticacidosis

Always present (100%)HP:0003128

Renal failure

Always present (100%)HP:0000083

Respiratory failure

Always present (100%)HP:0002878

Generalised decreased muscle tone

Very frequent (80-99%)HP:0001290

Hydramnios

Frequent (30-79%)HP:0001561

Hyporeflexia

Frequent (30-79%)HP:0001265

Inactivity

Frequent (30-79%)HP:0001254

Tongue fasciculations/fibrillations

Frequent (30-79%)HP:0001308

Absent deep tendon reflexes

Occasional (5-29%)HP:0001284

Disease of the heart muscle

Occasional (5-29%)HP:0001638

Enlarged liver

Occasional (5-29%)HP:0002240

Jerking

Occasional (5-29%)HP:0001336

Peripheral neuropathy

Occasional (5-29%)HP:0009830

Cerebral cortex atrophy

HP:0002120

Cerebral pachygyria

HP:0001302

CNS hypomyelination

HP:0003429

Delayed myelination

HP:0012448

Epilepsy

HP:0001250

Fatty liver

HP:0001397

Feeding difficulties

HP:0011968

Hepatopathy

HP:0001410

Hypoacusis

HP:0000365

Hypoplasia of corpus callosum

HP:0002079

Increased CSF lactic acid

HP:0002490

Myopathy

HP:0003198

Nonverbal

HP:0001344

Psychomotor development deficiency

HP:0001263

Renal adysplasia

HP:0000110

Renal cyst

HP:0000107

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Inherited metabolic disorder of nervous system(parent)

Mitochondrial cytopathy(parent)

Quick Facts

SNOMED CT: 783558004
UMLS CUI: C5190991
Fully Specified Name: Combined oxidative phosphorylation defect type 11 (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.