COXPD17 - combined oxidative phosphorylation defect type 17

disorder

SNOMED 775908005CUI C3809526

Overview

COXPD17 - combined oxidative phosphorylation defect type 17 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.

Cardiomyopathy, hypertrophic

Always present (100%)HP:0001639

Respiratory complex I deficiency

Always present (100%)HP:0011923

Central hypotonia

Frequent (30-79%)HP:0001252

Heart failure

Frequent (30-79%)HP:0001635

Lacticacidemia

Frequent (30-79%)HP:0003128

Mental and motor retardation

Frequent (30-79%)HP:0001263

Small for gestational age infant

Frequent (30-79%)HP:0001511

Decreased size of cranium

Occasional (5-29%)HP:0000252

Growth delay as children

Occasional (5-29%)HP:0008897

Postnatal failure to thrive

Occasional (5-29%)HP:0001508

Sensorineural deafness

Occasional (5-29%)HP:0000407

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Hypertrophic mitochondrial cardiomyopathy(parent)

Mitochondrial cytopathy(parent)

Cardiovascular system hereditary disorder(parent)

Quick Facts

SNOMED CT: 775908005
UMLS CUI: C3809526
Fully Specified Name: Combined oxidative phosphorylation defect type 17 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 11

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.