| Contact us | |
| Return to database |
Prevalence (%) of clinical parameters based on data from 2 references describing 40 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 |
| Ataxia | nervous | 100 % | 8133312 | 2012-01-12 | |
| Hypotonia | nervous | 100 % | 8133312 | 2012-01-12 | |
| Athetosis | nervous | 100 % | 8133312 | 2012-01-12 | |
| Areflexia | nervous | 100 % | 8133312 | 2012-01-12 | |
| Neuropathy | nervous | 100 % | 8133312 | 2012-01-12 | |
| Hearing loss | nervous | 100 % | 8133312 | 2012-01-12 | |
| Headache | nervous | 100 % | 19304794 | 2012-01-12 | |
| Ophthalmoplegia | nervous | 95 % | 8133312 | 2012-01-12 | |
| Seizures | nervous | 86 % | 19304794 | 2012-01-12 | |
| Cerebellar atrophy | nervous | 84 % | 8133312 | 2012-01-12 | |
| Babinski's sign | nervous | 79 % | 8133312 | 2012-01-12 | |
| Optic atrophy | nervous | 68 % | 8133312 | 2012-01-12 | |
| Facial weakness | nervous | 42 % | 8133312 | 2012-01-12 | |
| Psychiatric symptom | nervous | 38 % | 19304794 | 2012-01-12 |
List of references:
-
Recessive twinkle mutations cause severe epileptic encephalopathy.
Tuula Lönnqvist, Anders Paetau, Leena Valanne, Helena Pihko,
Brain : a journal of neurology - Jun 2009