COXPD12 - combined oxidative phosphorylation defect type 12

disorder

SNOMED 763366000CUI C4706421

Overview

COXPD12 - combined oxidative phosphorylation defect type 12 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.

Alanine aminotransferase increased

Always present (100%)HP:0031964

Alpha fetoprotein abnormal

Always present (100%)HP:0006254

Decreased activity of mitochondrial complex III

Always present (100%)HP:0011924

Decreased activity of mitochondrial complex IV

Always present (100%)HP:0008347

Delay in head control

Always present (100%)HP:0002421

Elevated serum aspartate aminotransferase

Always present (100%)HP:0031956

Lacticacidemia

Always present (100%)HP:0003128

Muscular hypotonia

Always present (100%)HP:0001252

Respiratory complex I deficiency

Always present (100%)HP:0011923

Delayed CNS myelination

Very frequent (80-99%)HP:0002188

Neurodevelopmental regression

Very frequent (80-99%)HP:0002376

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Extensor plantar responses

Frequent (30-79%)HP:0003487

Hypoplasia of corpus callosum

Frequent (30-79%)HP:0002079

Nonverbal

Frequent (30-79%)HP:0001344

Seizures

Frequent (30-79%)HP:0001250

Spastic tetraparesis

Frequent (30-79%)HP:0001285

Truncal hypotonia

Frequent (30-79%)HP:0008936

Absence of corpus callosum

Occasional (5-29%)HP:0001274

Cleft of palate

Occasional (5-29%)HP:0000175

Enlarged liver

Occasional (5-29%)HP:0002240

Feeding difficulties

Occasional (5-29%)HP:0011968

Macrovesicular steatosis

Occasional (5-29%)HP:0001403

Slowed or blocked flow of bile from liver

Occasional (5-29%)HP:0001396

Dysplasia of corpus callosum

HP:0006989

Dystonic disease

HP:0001332

Eye muscle paralysis

HP:0000602

Eyelid ptosis

HP:0000508

Hypotonia, in neonatal onset

HP:0001319

Increased blood lactate

HP:0002151

Related Conditions

Leukoencephalopathy(parent)

Congenital disease(parent)

Recessive hereditary disorder (autosomal)(parent)

Mitochondrial cytopathy(parent)

Hereditary disorder of nervous system(parent)

Quick Facts

SNOMED CT: 763366000
UMLS CUI: C4706421
Fully Specified Name: Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (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.