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Prevalence (%) of clinical parameters based on data from 1 references describing 7 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 |
| Hyperactive reflexes | nervous | 86 % | 29604224 | 2020-01-13 | |
| Muscle atrophy | nervous | 86 % | 29604224 | 2020-01-13 | |
| Ataxia | nervous | 71 % | 29604224 | 2020-01-13 | |
| Babinski's sign | nervous | 71 % | 29604224 | 2020-01-13 | |
| Dysarthria | nervous | 67 % | 29604224 | 2020-01-13 | |
| Developmental delay | nervous | 57 % | 29604224 | 2020-01-13 | |
| Spasticity | nervous | 50 % | 29604224 | 2020-01-13 | |
| Cerebellar atrophy | nervous | 43 % | 29604224 | 2020-01-13 | |
| Cognitive deficits | nervous | 29 % | 29604224 | 2020-01-13 | |
| Areflexia | nervous | 14 % | 29604224 | 2020-01-13 | |
| Seizures | nervous | 14 % | 29604224 | 2020-01-13 | |
| Dystonia | nervous | 14 % | 29604224 | 2020-01-13 | |
| Myoclonus | nervous | 14 % | 29604224 | 2020-01-13 |
List of references:
Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.
Eunju Seong, Ryan Insolera, Marija Dulovic, Erik-Jan Kamsteeg, Joanne Trinh, Norbert Brüggemann, Erin Sandford, Sheng Li, Ayse Bilge Ozel, Jun Z Li, Tamison Jewett, Anneke J A Kievit, Alexander Münchau, Vikram Shakkottai, Christine Klein, Catherine A Collins, Katja Lohmann, Bart P van de Warrenburg, Margit Burmeister,
Annals of neurology - Jun 2018