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Prevalence (%) of clinical parameters based on data from 1 references describing 2 individuals
Areflexia
Ataxia
Cerebellar atrophy
Dysarthria
Dysmetria
Muscle cramps
Myalgia
Neuropathy
Nystagmus
Dysdiadochokinesia
Hypogonadism
Muscle hypertrophy
Myotonia
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 % | 29472272 | 2019-02-04 | |
| Dysmetria | nervous | 100 % | 29472272 | 2019-02-04 | |
| Areflexia | nervous | 100 % | 29472272 | 2019-02-04 | |
| Cerebellar atrophy | nervous | 100 % | 29472272 | 2019-02-04 | |
| Neuropathy | nervous | 100 % | 29472272 | 2019-02-04 | |
| Nystagmus | nervous | 100 % | 29472272 | 2019-02-04 | |
| Dysarthria | nervous | 100 % | 29472272 | 2019-02-04 | |
| Myalgia | skeletal | 100 % | 29472272 | 2019-02-04 | |
| Muscle cramps | skeletal | 100 % | 29472272 | 2019-02-04 | |
| Dysdiadochokinesia | nervous | 50 % | 29472272 | 2019-02-04 | |
| Hypogonadism | reproductive | 50 % | 29472272 | 2019-02-04 | |
| Muscle hypertrophy | nervous | 50 % | 29472272 | 2019-02-04 | |
| Myotonia | skeletal | 50 % | 29472272 | 2019-02-04 |
List of references:
Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy.
Emer O'Connor, Jana Vandrovcova, Enrico Bugiardini, Viorica Chelban, Andreea Manole, Indran Davagnanam, Sarah Wiethoff, Alan Pittman, David S Lynch, Stephanie Efthymiou, Silvia Marino, Adnan Y Manzur, Mark Roberts, Michael G Hanna, Henry Houlden, Emma Matthews, Nicholas W Wood,
Journal of neurology, neurosurgery, and psychiatry - Nov 2018