Neurodevelopmental Disorder Mitochondrial With Abnormal Movements And Lactic Acidosis With Or Without Seizures
NEMMLAS

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Prevalence (%) of clinical parameters based on data from 1 references describing 6 individuals







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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%)
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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 - 12 2017