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Prevalence (%) of clinical parameters based on data from 1 references describing 12 individuals
Add new symptom/sign to this disease
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
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