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Syndromic sensorineural hearing loss due to COXPD (combined oxidative phosphorylation defect)

disorder
SNOMED 1260133007CUI C4693450

Overview

Syndromic sensorineural hearing loss due to COXPD (combined oxidative phosphorylation defect) 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.

Bilateral congenital sensorineural deafness
Always present (100%)HP:0008527
Fatty liver
Always present (100%)HP:0001397
Increased blood lactate
Always present (100%)HP:0002151
Low blood sugar
Always present (100%)HP:0001943
Addison's disease
Frequent (30-79%)HP:0008207
Enlarged liver
Frequent (30-79%)HP:0002240
Hepatic insufficiency
Frequent (30-79%)HP:0001399
Increased blood urea nitrogen
Frequent (30-79%)HP:0003138
Increased creatinine
Frequent (30-79%)HP:0003259
Lacticacidosis
Frequent (30-79%)HP:0003128
Pancytopenia
Frequent (30-79%)HP:0001876
Poor weight gain
Frequent (30-79%)HP:0001508
Primary hypogonadism
Frequent (30-79%)HP:0000815
Pyrexia
Frequent (30-79%)HP:0001945
Thyroid-stimulating hormone excess
Frequent (30-79%)HP:0002925
Vomiting
Frequent (30-79%)HP:0002013

Related Conditions

Disorder of mitochondrial respiratory chain complexes(parent)
Mitochondrial cytopathy(parent)
Congenital sensorineural hearing loss(parent)
Recessive hereditary disorder (autosomal)(parent)
Hereditary hearing loss(parent)

Quick Facts

SNOMED CT
1260133007
UMLS CUI
C4693450
Fully Specified Name
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
16
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.