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ORPHA:572798Disease
Also called Mitochondrial tryptophanyl-tRNA synthetase deficiency
What it is
A rare mitochondrial oxidative phosphorylation disorder characterized by a spectrum of three main clinical phenotypes comprising a severe neonatal phenotype with early fatal lactic acidosis, a more protracted course with early-onset developmental delay, motor weakness, extrapyramidal signs, and with or without epilepsy, and a phenotype with normal early development and Parkinson-like symptoms starting around the age of one year. Additional, variably reported, signs and symptoms include cardiomyopathy, optic anomalies, hepatosplenomegaly, and abnormal brain MRI findings, among others. Deficiencies in mitochondrial oxidative phosphorylation enzymes are inconsistent.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
4Common30–79%
21- Abnormal enzyme/coenzyme activity
- Abnormality of speech or vocalization
- Abnormal periventricular white matter morphology
- Aggressive behavior
- Axial hypotonia
- Cerebellar atrophy
- Cerebral atrophy
- Cerebral white matter hypoplasia
- Delayed myelination
- Gait disturbance
- Generalized amyotrophy
- Hyperreflexia
- Increased circulating lactate concentration
- Intellectual disability, moderate
- Intrauterine growth retardation
- Lactic acidosis
- Limb dystonia
- Limb hypertonia
- Muscle weakness
- Seizure
- Ventriculomegaly
Sometimes5–29%
32- Abnormal facial shape
- Absent speech
- Amblyopia
- Ataxia
- Athetosis
- Cardiomyopathy
- Cerebellar vermis hypoplasia
- Difficulty standing
and 24 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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