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Prevalence (%) of clinical parameters based on data from 1 references describing 6 individuals
Add new symptom/sign to this disease
| Pubmed id number as a reference | Organ system affected | ||
| Number of patients in the reference | Percent affected patients (Between 0 and 1, eg. 0.1 = 10%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
List of symptoms
| Symptom/sign | Organ system | Percent affected | Pubmed id | Added on(yyyy-mm-dd) | Edit/add reference |
| Developmental delay | nervous | 100 % | 28905505 | 2018-08-23 | |
| Lactate accumulation | circulatory | 100 % | 28905505 | 2018-08-23 | |
| Dysphagia | nervous | 80 % | 28905505 | 2018-08-23 | |
| Hypertonia | nervous | 67 % | 28905505 | 2018-08-23 | |
| Hypotonia | nervous | 50 % | 28905505 | 2018-08-23 | |
| Dystonia | nervous | 50 % | 28905505 | 2018-08-23 | |
| Seizures | nervous | 50 % | 28905505 | 2018-08-23 | |
| Cerebral atrophy | nervous | 40 % | 28905505 | 2018-08-23 | |
| Demyelination | nervous | 33 % | 28905505 | 2018-08-23 | |
| Ataxia | nervous | 25 % | 28905505 | 2018-08-23 | |
| Basal ganglia pathology | nervous | 20 % | 28905505 | 2018-08-23 | |
| Cerebellar atrophy | nervous | 20 % | 28905505 | 2018-08-23 | |
| Cardiomyopathy | circulatory | 17 % | 28905505 | 2018-08-23 | |
| Retinitis pigmentosa | nervous | 17 % | 28905505 | 2018-08-23 | |
| Nystagmus | nervous | 17 % | 28905505 | 2018-08-23 | |
| Optic atrophy | nervous | 17 % | 28905505 | 2018-08-23 |
List of references:
Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.
Saskia B Wortmann, Sharita Timal, Hanka Venselaar, Liesbeth T Wintjes, Robert Kopajtich, René G Feichtinger, Carla Onnekink, Mareike Mühlmeister, Ulrich Brandt, Jan A Smeitink, Joris A Veltman, Wolfgang Sperl, Dirk Lefeber, Ger Pruijn, Vesna Stojanovic, Peter Freisinger, Francjan V Spronsen, Terry Gj Derks, Hermine E Veenstra-Knol, Johannes A Mayr, Agnes Rötig, Mark Tarnopolsky, Holger Prokisch, Richard J Rodenburg,
Human mutation - Dec 2017