WARS2-related combined oxidative phosphorylation defect

disorder

SNOMED 1260128008CUI C4540192

Overview

WARS2-related 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.

Delayed CNS myelination

Always present (100%)HP:0002188

Difficulty articulating speech

Always present (100%)HP:0001260

Diffuse cerebral atrophy

Always present (100%)HP:0002506

Increased length of philtrum

Always present (100%)HP:0000343

Low blood sugar

Always present (100%)HP:0001943

Severe temper tantrums

Always present (100%)HP:0025162

Abnormality of movement

Very frequent (80-99%)HP:0100022

Hypotonia, early

Very frequent (80-99%)HP:0008947

Mental deficiency

Very frequent (80-99%)HP:0001249

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Abnormal circulating enzyme concentration or activity

Frequent (30-79%)HP:0012379

Abnormal vocalization

Frequent (30-79%)HP:0002167

Abnormality of the periventricular white matter

Frequent (30-79%)HP:0002518

Appendicular hypertonia

Frequent (30-79%)HP:0002509

Cerebral white matter hypoplasia

Frequent (30-79%)HP:0012430

Degeneration of cerebellum

Frequent (30-79%)HP:0001272

Delayed myelination

Frequent (30-79%)HP:0012448

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

Epilepsy

Frequent (30-79%)HP:0001250

Gait disturbance

Frequent (30-79%)HP:0001288

Increased blood lactate

Frequent (30-79%)HP:0002151

Increased reflexes

Frequent (30-79%)HP:0001347

Lacticacidosis

Frequent (30-79%)HP:0003128

Limb dystonia

Frequent (30-79%)HP:0002451

Moderate mental retardation

Frequent (30-79%)HP:0002342

Muscle atrophy, generalised

Frequent (30-79%)HP:0003700

Muscle weakness

Frequent (30-79%)HP:0001324

physical aggression

Frequent (30-79%)HP:0000718

Small for gestational age infant

Frequent (30-79%)HP:0001511

Supratentorial atrophy

Frequent (30-79%)HP:0002059

Related Conditions

Inherited metabolic disorder of nervous system(parent)

Mitochondrial cytopathy(parent)

Developmental hereditary disorder(parent)

Recessive hereditary disorder (autosomal)(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1260128008
UMLS CUI: C4540192
Fully Specified Name: Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect (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.