COXPD15 - combined oxidative phosphorylation defect type 15

disorder

SNOMED 763203009CUI C4706313

Overview

COXPD15 - combined oxidative phosphorylation defect type 15 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 I

Always present (100%)HP:0011923

Decreased activity of mitochondrial complex IV

Always present (100%)HP:0008347

Increased CSF lactic acid

Always present (100%)HP:0002490

Psychomotor development deficiency

Always present (100%)HP:0001263

Worsening neurological symptoms

Always present (100%)HP:0002344

Ataxia

Frequent (30-79%)HP:0001251

Corticospinal signs

Frequent (30-79%)HP:0007256

Decreased visual acuity

Frequent (30-79%)HP:0007663

Disproportionately small hands

Frequent (30-79%)HP:0200055

Epilepsy

Frequent (30-79%)HP:0001250

High blood pressure

Frequent (30-79%)HP:0000822

Higher than normal levels of lactate in blood

Frequent (30-79%)HP:0002151

Incoordination

Frequent (30-79%)HP:0002311

Inguinal hernia

Frequent (30-79%)HP:0000023

Optic atrophy

Frequent (30-79%)HP:0000648

Optic disc pallor

Frequent (30-79%)HP:0000543

Respiratory arrest

Frequent (30-79%)HP:0005943

Secondary generalized tonic clonic seizures

Frequent (30-79%)HP:0007334

Shortened PR interval on EKG

Frequent (30-79%)HP:0005165

Single flexion crease

Frequent (30-79%)HP:0000954

Sleep terror

Frequent (30-79%)HP:0030765

Squint

Frequent (30-79%)HP:0000486

Wolff-Parkinson-White syndrome

Frequent (30-79%)HP:0001716

Central hypotonia

Occasional (5-29%)HP:0001252

Decreased body height

Occasional (5-29%)HP:0004322

Decreased size of cranium

Occasional (5-29%)HP:0000252

Involuntary, rapid, rhythmic eye movements

Occasional (5-29%)HP:0000639

Obesity

Occasional (5-29%)HP:0001513

Tremor

Occasional (5-29%)HP:0001337

VSD

Occasional (5-29%)HP:0001629

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Mitochondrial cytopathy(parent)

Quick Facts

SNOMED CT: 763203009
UMLS CUI: C4706313
Fully Specified Name: Combined oxidative phosphorylation defect type 15 (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.