Combined oxidative phosphorylation defect type 29

disorder

SNOMED 1172843003CUI C5567607

Overview

Combined oxidative phosphorylation defect type 29 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.

Abnormal muscle tone

Very frequent (80-99%)HP:0003808

Autonomic dysregulation

Very frequent (80-99%)HP:0012332

Axonal degeneration

Very frequent (80-99%)HP:0040078

Damaged optic nerve

Very frequent (80-99%)HP:0001138

Delayed myelination

Very frequent (80-99%)HP:0012448

Diffuse cerebellar atrophy

Very frequent (80-99%)HP:0100275

Elevated csf protein

Very frequent (80-99%)HP:0002922

Gastro-jejunal tube feeding in infancy

Very frequent (80-99%)HP:0030884

Generalised brain degeneration

Very frequent (80-99%)HP:0002283

Generalized tonic-clonic seizure (without specification of onset)

Very frequent (80-99%)HP:0002069

GI dysmotility

Very frequent (80-99%)HP:0002579

Global developmental delay, severe

Very frequent (80-99%)HP:0011344

Higher than normal levels of lactate in blood

Very frequent (80-99%)HP:0002151

Incoordination

Very frequent (80-99%)HP:0002311

Increased CSF lactic acid

Very frequent (80-99%)HP:0002490

Myoclonic spasms

Very frequent (80-99%)HP:0003739

Neurodegenerative disease

Very frequent (80-99%)HP:0002180

Respiratory complex I deficiency

Very frequent (80-99%)HP:0011923

Respiratory complex III deficiency

Very frequent (80-99%)HP:0011924

Small skull present at birth

Very frequent (80-99%)HP:0011451

Subependymal germinolytic cyst

Very frequent (80-99%)HP:0002416

Decreased size of cranium

HP:0000252

Degeneration of cerebellum

HP:0001272

Delayed CNS myelination

HP:0002188

Dystonic movements

HP:0001332

Feeding difficulties

HP:0011968

Generalised decreased muscle tone

HP:0001290

Involuntary muscle stiffness, contraction, or spasm

HP:0001257

Neuropathy

HP:0009830

Noninflammatory retina disease

HP:0000488

Related Conditions

Inherited metabolic disorder of nervous system(parent)

Disorder of mitochondrial respiratory chain complexes(parent)

Mitochondrial cytopathy(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary cerebellar atrophy(parent)

Quick Facts

SNOMED CT: 1172843003
UMLS CUI: C5567607
Fully Specified Name: Combined oxidative phosphorylation defect type 29 (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.