Combined oxidative phosphorylation defect type 25

disorder

SNOMED 1173035001CUI C5567742

Overview

Combined oxidative phosphorylation defect type 25 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.

Aspiration pneumonia

Always present (100%)HP:0011951

Decreased body height

Always present (100%)HP:0004322

Degeneration of cerebellum

Always present (100%)HP:0001272

Feeding difficulties

Always present (100%)HP:0011968

Flat nasal bridge

Always present (100%)HP:0005280

Generalised decreased muscle tone

Always present (100%)HP:0001290

Increased length of philtrum

Always present (100%)HP:0000343

Low-set ears

Always present (100%)HP:0000369

Nasal hypoplasia

Always present (100%)HP:0003196

Nostrils anteverted

Always present (100%)HP:0000463

Pectus carinatum

Always present (100%)HP:0000768

Psychomotor development deficiency

Always present (100%)HP:0001263

Reduced circulating growth hormone concentration

Always present (100%)HP:0034323

Sensorineural deafness

Always present (100%)HP:0000407

Bulging forehead

Frequent (30-79%)HP:0011220

Cerebral atrophy

Frequent (30-79%)HP:0002059

Chronic constipation

Frequent (30-79%)HP:0012450

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

Flat philtrum

Frequent (30-79%)HP:0000319

Increased distance between eyes

Frequent (30-79%)HP:0000316

Increased width of bridge of nose

Frequent (30-79%)HP:0000431

Intraventricular hemorrhage

Frequent (30-79%)HP:0030746

Pontine hypoplasia

Frequent (30-79%)HP:0012110

Poor weight gain

Frequent (30-79%)HP:0001508

Syndactyly

Frequent (30-79%)HP:0001159

Related Conditions

Inherited metabolic disorder of nervous system(parent)

Deficiency in enzyme complexes of mitochondrial respiratory chain(parent)

Mitochondrial cytopathy(parent)

Sensorineural hearing loss(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 1173035001
UMLS CUI: C5567742
Fully Specified Name: Combined oxidative phosphorylation defect type 25 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 25

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.