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Prevalence (%) of clinical parameters based on data from 1 references describing 12 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 |
| Nystagmus | nervous | 100 % | 16707726 | 2015-03-20 | |
| Hypomyelination | nervous | 100 % | 16707726 | 2015-03-20 | |
| Spasticity | nervous | 100 % | 16707726 | 2015-03-20 | |
| Ataxia | nervous | 100 % | 16707726 | 2015-03-20 | |
| Tremor | nervous | 100 % | 16707726 | 2015-03-20 | |
| Dysarthria | nervous | 100 % | 16707726 | 2015-03-20 | |
| Developmental delay | nervous | 92 % | 16707726 | 2015-03-20 | |
| Mental retardation | nervous | 83 % | 16707726 | 2015-03-20 | |
| Optic atrophy | nervous | 33 % | 16707726 | 2015-03-20 |
List of references:
GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy.
M Bugiani, S Al Shahwan, E Lamantea, A Bizzi, E Bakhsh, I Moroni, M R Balestrini, G Uziel, M Zeviani,
Neurology - Jul 2006