neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
MONDO:0060578Mondo
Findings
No curated finding names neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
63 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Absent speechHPOHP:0001344
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Aggressive behaviorHPOHP:0000718
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- AmblyopiaHPOHP:0000646
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- AtaxiaHPOHP:0001251
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- AthetosisHPOHP:0002305
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- Delayed CNS myelinationHPOHP:0002188
- 1 of 1 reported patient
- Diffuse cerebral atrophyHPOHP:0002506
- 1 of 1 reported patient
- DysarthriaHPOHP:0001260
- 2 of 2 reported patients
- DysmetriaHPOHP:0001310
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- ExotropiaHPOHP:0000577
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Generalized amyotrophyHPOHP:0003700
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 51
- HyperreflexiaHPOHP:0001347
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- HypoglycemiaHPOHP:0001943
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- LeukoencephalopathyHPOHP:0002352
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Long philtrumHPOHP:0000343
- 2 of 2 reported patients
- Multifocal seizuresHPOHP:0031165
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- WARS2HGNC:12730
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
1 name
Resolves to: neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
- Also called
- mitochondrial tryptophanyl-tRNA synthetase deficiency