Combined oxidative phosphorylation defect type 7

disorder

SNOMED 763204003CUI C3150801

Overview

Combined oxidative phosphorylation defect type 7 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.

Higher than normal levels of lactate in blood

Always present (100%)HP:0002151

Neurogenic muscle atrophy, especially in the lower limbs

Very frequent (80-99%)HP:0003202

Optic atrophy

Very frequent (80-99%)HP:0000648

Poor vision

Very frequent (80-99%)HP:0000505

Axonal neuropathy

Frequent (30-79%)HP:0003477

Clumsy tandem walking

Frequent (30-79%)HP:0031629

Corticospinal signs

Frequent (30-79%)HP:0007256

Deglutition disorder

Frequent (30-79%)HP:0002015

Distal muscle atrophy, upper and lower limbs

Frequent (30-79%)HP:0003693

External ophthalmoplegia

Frequent (30-79%)HP:0000544

Eye muscle paralysis

Frequent (30-79%)HP:0000602

Facial paresis

Frequent (30-79%)HP:0007209

Gait disturbance

Frequent (30-79%)HP:0001288

Intellectual impairment

Frequent (30-79%)HP:0100543

Loss of distal sensation

Frequent (30-79%)HP:0002936

Lower limb hyperreflexia

Frequent (30-79%)HP:0002395

Lower limb muscle weakness

Frequent (30-79%)HP:0007340

Mental and motor retardation

Frequent (30-79%)HP:0001263

Partial loss of field of vision

Frequent (30-79%)HP:0001123

Peripheral hypotonia

Frequent (30-79%)HP:0001252

Peripheral nerve disease

Frequent (30-79%)HP:0001271

Pes cavus

Frequent (30-79%)HP:0001761

Spastic paraparesis

Frequent (30-79%)HP:0002313

Squint

Frequent (30-79%)HP:0000486

Undergrowth

Frequent (30-79%)HP:0001508

Abnormal brainstem MRI signal intensity

Occasional (5-29%)HP:0012747

Abnormal thalamic MRI signal intensity

Occasional (5-29%)HP:0012696

Abnormality of the cerebral white matter

Occasional (5-29%)HP:0002500

Areflexia

Occasional (5-29%)HP:0001284

Ataxia

Occasional (5-29%)HP:0001251

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Mitochondrial cytopathy(parent)

Quick Facts

SNOMED CT: 763204003
UMLS CUI: C3150801
Fully Specified Name: Combined oxidative phosphorylation defect type 7 (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.